Публикации

СИНОНИМИ: Латерална амиотрофична склероза (ЛАС)
Болест на Шарко
Болест на Лу Гериг

КОД МКБ10: G12.2

КОД ORPHANET: ORPHA803

ТАЗИ ИНФОРМАЦИЯ ВИ СЕ ПРЕДОСТАВЯ НАПЪЛНО БЕЗПЛАТНО С ОБРАЗОВАТЕЛНА ЦЕЛ И НЕ ТРЯБВА ДА СЛУЖИ ЗА САМОДИАГНОСТИКА И САМОЛЕЧЕНИЕ. ПРИ НАЛИЧИЕ НА ЗДРАВЕН ПРОБЛЕМ, СЛЕДВА ДА СЕ ОБЪРНЕТЕ КЪМ ЛИЧНИЯ/ЛЕКУВАЩ ЛЕКАР.

КРАТКА ДЕФИНИЦИЯ НА БОЛЕСТТА: Латерална амиотрофична склероза е прогресивно неврологично заболяване, което се характеризира с моторно–неврална дегенерация на мозъчния кортекс, мозъчния ствол и гръбначния стълб. Като последствие от това пациентите развиват мускулна слабост и дихателна недостатъчност.

ЕТИОЛОГИЯ: Тъй като само при 1–2% от случаите с латерална амиотрофична склероза е доказана генетична причина, заболяването се отнася към невродегенеративните заболявания с неизяснен произход. Това предполага участието на множество фактори в генезата му. По отношение на генетичните фактори за развитието на спорадичната ЛАС има съвсем ограничена информация. При някои са установени de novo настъпили мутации в гена на ензима супероксидната дисмутаза 1 (SOD1). Фамилната ЛАС се унаследява най-често по автозомно-доминантен начин, като са описани над 100 различни мутации на гена, кодиращ Cu/Z супероксидната дисмутаза – белтък, участващ в изчистването на свободните радикали. Мутациите могат да бъдат субституция на единична база, инсерция, делеция, «missense» и «nonsense» мутации и всяка от тях довежда до синтез на белтък с нова функция с токсичен ефект. Предразположеността към ЛАС може да бъде детерминирана също от делеции или инсерции на гена, кодиращ тежката субединица на неврофиламента (heavy neurofilament subunit (NEFH) и от делеции на гена, кодиращ белтъка периферин (PRPH). При рядката автозомно-рецесивна форма на ЛАС са намерени мутации на гена, кодиращ белтъка алсин – ALS2.

КЛИНИЧНИ ПРОЯВИ: –

ГЕНЕТИЧНА КОНСУЛТАЦИЯ:
Желателно е провеждане на генетична консултация. При около 5-10% от пациентите с ЛАС е налице фамилност, а останалите се определят като спорадични. Предвид предимно автозомно-доминантния тип унаследяване при фамилните случаи се определя 50%-ен риск за засягане на поколението им.

ЛЕЧЕНИЕ: За момента няма установена терапия, която да повлияе хода на заболяването. При широк кръг от пациенти с ЛАС може да се прилага това лечение, което се използва за предпазване на моторните неврони от загиване при различни травми. Значителен брой фактори са показали потенциал да предотвратяват клетъчна смърт на моторните неврони, както in vitro така и in vivo. Такива са трофичните фактори за моторни неврони GDNF (Glial-cell-line-derived neurotrophic factor) и IGF-1 (insulin-like growth factor 1). За съжаление ефектът от опитите с IGF-1 при ЛАС пациенти е показал минимален или никакъв ефект. Подобни негативни опити се съобщават и с факторите BDNF (brain-derived growth factor) и CNTF (ciliary neurotrophic factor).

ЛЕКАРСТВО СИРАК: –

АСОЦИАЦИИ НА ПАЦИЕНТИ:

НАЦИОНАЛЕН АЛИАНС НА ХОРАТА С РЕДКИ БОЛЕСТИ
Лице за контакти: Владимир Томов
Електронна поща: tomov@raredis.org
Адрес за кореспонденция: бул.“Драган Цанков“ бл. 59-63 вх. 7, София 1000

СПЕЦИАЛИЗИРАНИ ЛАБОРАТОРИИ:
Лаборатория по молекулярна патология, СБАЛАГ «Майчин дом», София

СПЕЦИАЛИЗИРАНИ КЛИНИКИ:
Център по нервно-мускулни заболявания, Клиника по неврология, Александровска болница, София

Медицински център РареДис
Специализиран медицински център за физиотерапия и рехабилитация, детски болести, генетични консултации.

Електронна поща: medical@raredis.org
Адрес за кореспонденция: гр. Пловдив, ЖК Тракия, ул. „Маестро Г. Атанасов“ 22
Телефон: (032) 575 797
Интернет сайт: www.medical.raredis.org

ДОПЪЛНИТЕЛНА ИНФОРМАЦИЯ:

За допълнителна информация, моля посетете сайтовете на Orphanet и NIH Office of Rare Diseases Research.

БИБЛИОТЕКА РЕДКИ БОЛЕСТИ:
Подробен обзор за латерална амиотрофична склероза може да прочетете в брой 3 на “Редки болести & Лекарства сираци”. Натиснете тук, за отворите pdf-файла с описанието (размер на файла 690 KB).

Ако желаете да се абонирате за безплатния електронен бюлетин “Редки болести & Лекарства сираци”, моля въведете Вашия e-mail тук.

Описанието е изготвено от Доц. д-р Маргарита Стефанова, дм.

–––––––––––––––––––––––––
Last modification: 20:18 28.08.2010
–––––––––––––––––––––––––

Това е списък на 6073 редки състояния (болести и синдроми), компилиран от различни информационни източници (Orphanet, NORD etc.). Списъкът не претендира за изчерпателност и би могъл да бъде използван за образователни и демонстрационни цели.

Свалете списъка, като кликнете тук
(на английски език, PDF формат, размер на файла – 117 Kb)

––––––––––––––-
-0-9-, -A-

11 beta hydroxylase deficiency
11 beta hydroxysteroid dehydrogenase type 2 deficiency
17 alpha hydroxylase deficiency
17 beta hydroxysteroide dehydrogenase deficiency
2,8 dihydroxy-adenine urolithiasis
2-hydroxyglutaricaciduria
21 hydroxylase deficiency
3 beta hydroxysteroid dehydrogenase deficiency
3 hydroxyisobutyric aciduria
3 methylcrotonic aciduria
3 methylglutaconyl coa hydratase deficiency
3-hydroxy 3-methyl glutaryl-coa lyase deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
3-methyl crotonyl-coa carboxylase deficiency
3-methyl glutaconic aciduria
3-methylcrotonylglycinuria
3c syndrome
3m syndrome
4 alpha hydroxyphenylpyruvate hydroxylase deficiency
46 xx gonadal dysgenesis epibulbar dermoid
47 XXY syndrome
47 xyy syndrome
48 xxxx syndrome
48 xxyy syndrome
49 xxxxx syndrome
49 xxxxy syndrome
5 alpha reductase 2 deficiency
6-pyruvoyltetrahydropterin synthase deficiency
7-dehydrocholesterol reductase deficiency
aagenaes syndrome
aarskog like syndrome
aarskog ose pande syndrome
aarskog syndrome
aase smith syndrome
aase syndrome
abcd syndrome
abdallat davis farrage syndrome
abdominal aortic aneurysm
abdominal cystic lymphangioma
abdominal musculature absent microphthalmia joint laxity
abetalipoproteinemia
ablepharon macrostomia syndrome
abnormal systemic veinous return
abruzzo erickson syndrome
absent corpus callosum cataract immunodeficiency
absent hands and feet
abuelo-forman-rubin syndrome
acalvaria
acanthocytosis chorea
acanthocytosis neurologic disorder
acanthosis nigricans
acanthosis nigricans muscle cramps acral enlargement
acatalasemia
accessory pancreas
acetyl coa alpha glucosaminide n acetyl transferase deficiency
achalasia addisonianism alacrimia syndrome
achalasia alacrimia syndrome
achalasia familial esophageal
achalasia microcephaly
acheiropodia
achondrogenesis grebe type
achondrogenesis kozlowski type
achondrogenesis type 1
achondrogenesis type 1b
achondrogenesis type 2
achondroplasia
achondroplasia swiss type agammaglobulinemia
achromatopsia incomplete x linked
acid maltase deficiency
acitretine antenatal infection
ackerman syndrome
acoustic neurinoma
acquired autoimmune haemolytic anemia
acquired hypertrichosis lanuginosa
acquired ichtyosis
acquired progressive kinking of the hair
acquired prothrombin deficiency
acquired willebrand disease
acral dysostosis dyserythropoiesis
acral renal mandibular syndrome
acrania
acro cephalo synostosis
acro coxo mesomelic dysplasia
acro fronto facio nasal dysostosis
acrocallosal syndrome
acrocephalopolydactyly
acrocephalopolysyndactyly type 2
acrocephalopolysyndactyly type 3
acrocephalopolysyndactyly type 4
acrocephalosyndactyly jackson weiss type
acrocephalosyndactyly type 1
acrocephalosyndactyly type 3
acrocephalosyndactyly type 5
acrocephaly pulmonary stenosis mental retardation
acrocraniofacial dysostosis
acrodermatitis enteropathica zinc deficiency type
acrodysostosis
acrodysplasia scoliosis
acrofacial dysostosis ambiguous genitalia
acrofacial dysostosis atypical postaxial
acrofacial dysostosis catania form
acrofacial dysostosis nager type
acrofacial dysostosis preis type
acrofacial dysostosis rodriguez type
acrofacial dysostosis weyers type
acrofaciale dysostosis, palagonia type
Acrokeratoelastoidosis of Costa
acromegaloid changes cutis verticis gyrata corneal leukoma
acromegaloid facial appearance syndrome
acromegaloid hypertrichosis syndrome
acromegaly
acromesomelic dwarfism campailla martinelli type
acromesomelic dysplasia brahimi bacha type
acromesomelic dysplasia campailla martinelli type
acromesomelic dysplasia hunter thompson type
acromesomelic dysplasia maroteaux type
acromesomelic syndrome pfeiffer type
acromicric dysplasia
acroosteolysis dominant type
acroosteolysis neurogenic
acroosteolysis osteoporosis skull and mandible changes
acropectorenal field defect
acropectorovertebral dysplasia
acropigmentation of Dohi
acrorenal field defect ectodermal dysplasia diabetes
acrorenal syndrome recessive
acrorenoocular syndrome
acth resistance
acutane embryopathy
acute articular rheumatism
acute eosinophilic pneumonia
acute erythroblastic leukemia
acute febrile neutrophilic dermatosis
acute lymphoblastic leukemia
acute lymphoblastic leukemia congenital sporadic aniridia
acute megacaryoblastic leukemia
acute monoblastic leukemia
acute myeloblastic leukemia type 1
acute myeloblastic leukemia type 2
acute myeloblastic leukemia type 3
acute myeloblastic leukemia type 4
acute myeloblastic leukemia type 5
acute myeloblastic leukemia type 6
acute myeloblastic leukemia type 7
acute myeloblastic leukemia with maturation
acute myeloblastic leukemia without maturation
acute myelomonocytic leukemia
acute promyelocytic leukemia
acyl coa deshydrogenase deficiency
acyl coa deshydrogenase medium chain deficiency of
acyl coa oxydase deficiency
acyl-coa dehydrogenase short chain deficiency
acyl-coa dehydrogenase very long chain deficiency
adactylia unilateral dominant
adam complex familial
adams nance syndrome
adams oliver syndrome
adducted thumb syndrome recessive form
adducted thumbs dundar type
adenine phosphoribosyltransferase deficiency
adenosine deaminase deficiency
adenosine monophosphate deaminase deficiency
adenosine triphosphatase deficiency anemia due to
adenylosuccinase deficiency
adenylosuccinate lyase deficiency
adolescent benign focal crisis
adolescent idiopathic scoliosis
adrenal adenoma familial
adrenal hypoplasia congenital x linked
adrenal incidentaloma
adrenal macropolyadenomatosis
adrenocortical carcinoma
adrenoleukodystrophy autosomal neonatal form
adrenoleukodystrophy x-linked
adrenomyeloneuropathy (amn)
adrenomyodystrophy
adult idiopathic neutropenia
adult spinal muscular atrophy
adult syndrome
aec syndrome
afibrinogenemia, familial
african trypanosomiasis
agammaglobulinemia alymphocytotic type
agammaglobulinemia x linked
aganglionosis total intestinal
aganthia holoprosencephaly situs inversus
aggressive fibromatosis
aglossia adactylia
agonadism dextrocardia diaphragmatic hernia
agonadism mental retardation delayed bone age
agyria pachygyria polymicrogyria
agyria pachygyria type 1
aicardi goutieres syndrome
aicardi syndrome
akaba hayasaka syndrome
akesson syndrome
aksu stckhausen syndrome
al awadi farag teebi syndrome
al awadi teebi farag syndrome
al frayh facharzt haque syndrome
al gazali al talabani syndrome
al gazali aziz salem syndrome
al gazali donnai muller syndrome
al gazali hirschsprung syndrome
al gazali khidr prem chandran syndrome
al gazali sabrinathan nair syndrome
alagille syndrome
alanine glyoxylate aminotransferase deficiency
alar nasal cartilages coloboma of telecanthus
albers schonberg disease
albinism deafness syndrome
albinism immunodeficiency
albinism ocular
albinism ocular late onset sensorineural deafness
albinism oculocutaneous hermansky pudlak type
albinism yellow mutant type
albrecht schneider belmont syndrome
albright disease
albright hereditary osteodystrophy
albright like syndrome
alcohol antenatal infection
aldolase a deficiency
aldosterone synthase deficiency
alexander disease
alkaptonuria
allain babin demarquez syndrome
allan herndon syndrome
allanson pantzar mcleod syndrome
allergic bronchopulmonary aspergillosis
allgrove syndrome
aloi tomasini isaia syndrome
alopecia anosmia deafness hypogonadism syndrome

alopecia antibody deficiency
alopecia congenita keratosis palmoplantaris
alopecia contractures dwarfism mental retardation syndrome
alopecia epilepsy oligophrenia syndrome of moynahan
alopecia epilepsy pyorrhea mental subnormality
alopecia hypogonadism extrapyramidal disorder
alopecia immunodeficiency
alopecia macular degeneration growth retardation
alopecia mental retardation hypogonadism
alopecia mental retardation syndrome
alopecia totalis
alopecia universalis
alopecia universalis onychodystrophy vitiligo
alpers progressive sclerosing poliodystrophy
alpha 1 antitrypsin deficiency
alpha 2 deficient collagen disease
alpha galactosidase a deficiency
alpha ketoglutarate dehydrogenase deficiency
alpha l fucosidase deficiency
alpha l iduronidase deficiency
alpha mannosidosis
alpha thalassemia
alpha thalassemia mental retardation x linked
Alpha-sarcoglycanopathy
alpha-thalassemia-abnormal morphogenesis
alport deafness nephropathy
alport syndrome
alport syndrome dominant type
alport syndrome macrothrombocytopenia
alport syndrome recessive type
alport syndrome with leukocyte inclusions and macrothrombocytopenia
alport syndrome x linked
alstrom syndrome
alternating hemiplegia
alveolar echinococcosis
alves dos santos castello syndrome
alzheimer disease familial
alzheimer disease type 1
alzheimer disease type 2
alzheimer disease type 3
amaurosis congenita of leber
amaurosis congenita of leber type 1
amaurosis congenita of leber type 2
amaurosis hypertrichosis
ambral syndrome
ambras syndrome
amegakaryocytic thrombocytopenia
amelia cleft lip palate hydrocephalus iris coloboma
amelia facial dysmorphism
amelia x linked
amelo cerebro hypohidrotique syndrome
amelogenesis imperfecta local hypoplastic form
amelogenesis imperfecta nephrocalcinosis
amelogenesis imperfecta x linked
ameloonychohypohidrotic syndrome
american trypanosomiasis
aminopterin antenatal infection
aminopterin like syndrome without aminopterin
amniotic bands sequence
Amoebiasis
Amoebiasis due to Entamoeba histolytica
Amoebiasis due to free-living amoebae
ampola syndrome
amylo-1,6-glucosidase deficiency
amyloid polyneuropathy transthyretin related
amyloidosis
amyloidosis
amyloidosis of gingiva and conjunctiva mental retardation
Amylopectinosis
amyoplasia
amyoplasia mandibulofacial dysostosis
amyotrophic lateral sclerosis
amyotrophy fat tissue anomaly
anaplastic large cell lymphoma
anaplastic thyroid cancer
andermann syndrome
Andersen disease
anderson disease
androgen insensitivity partial
androgen resistance syndrome
anemia congenital hypoplastic blackfan diamond type
anemia sideroblastic spinocerebellar ataxia
anemia triphalangeal thumbs
anencephaly
anencephaly recessive type
anencephaly spina bifida x linked
aneurysm of sinus of valsalva
angel shaped phalango epiphyseal dysplasia
angelman syndrome
angiofollicular lymph hyperplasia
angiokeratoma diffuse
angiokeratoma mental retardation coarse face
angioma hereditary neurocutaneous
angiomatosis systemic cystic seip syndrome
angioneurotic edema hereditary due to C1 esterase inhibitor deficiency
angioosteohypertrophy syndrome
Angiostrongyliasis
Anguillulosis
aniridia absent patella
aniridia ataxia renal agenesis psychomotor retardation
aniridia lens luxation mental retardation
aniridia mental retardation syndrome
aniridia ptosis mental retardation obesity familial type
aniridia renal agenesis psychomotor retardation
aniridia sporadic
aniridia type 2
anisakiasis
ankle defects short stature
ankyloblepharon cleft palate ectodermal defects
ankyloblepharon ectodermal defects cleft lip palate
ankyloblepharon filiforme adnatum cleft palate
ankyloblepharon filiforme imperforate anus
ankyloglossia heterochromia clasped thumbs
ankylosing spondylarthritis
ankylosing vertebral hyperostosis with tylosis
ankylosis of teeth
Ankylostomiasis
annular pancreas
annuloaortic ectasia
ano-rectal atresia
anonychia ectrodactyly
anonychia microcephaly
anonychia onychodystrophy
anonychia onychodystrophy brachydactyly type b
anophtalmia syndactyly waardenburg type
anophthalia pulmonary hypoplasia
anophthalmia cleft lip palate hypothalamic disorder
anophthalmia cleft palate micrognathia
anophthalmia esophageal atresia cryptorchidism
anophthalmia megalocornea cardiopathy skeletal anomalies
anophthalmia microcephaly hypogonadism
anophthalmia plus syndrome
anophthalmia short stature obesity
anophthalmia waardenburg syndrome
anophthalmos
anophthalmos clinical
anophthalmos with limb anomalies
anorectal anomalies
anotia
anotia facial palsy cardiac defect
ansell bywaters elderking syndrome
anterior horn disease
anterior pituitary insufficiency, familial
anti hla hyper immunization
anti-plasmin deficiency
antigen-peptide-transporter 2 deficiency
antihypertensive drugs antenatal infection
antinolo nieto borrego syndrome
antiphospholipid syndrome
antisynthetase syndrome
antithrombin deficiency
antley bixler syndrome
anyane yeboa syndrome
aorta-pulmonary artery fistula
aortic arch anomaly peculiar facies mental retardation
aortic arch interruption
aortic arches defect
aortic dissection lentiginosis
aortic supravalvular stenosis
aortic supravalvular stenosis
aortic valves stenosis of the child
aortic window
apeced syndrome
apert like polydactyly syndrome
apert syndrome
aphalangia hemivertebrae
aphalangia syndactyly microcephaly
aplasia cutis autosomal recessive
aplasia cutis cleft palate epidermolysis
aplasia cutis congenita dominant
aplasia cutis congenita epibulbar dermoids
aplasia cutis congenita intestinal lymphangiectasia
aplasia cutis congenita of limbs recessive
aplasia cutis congenita of limbs recessive
aplasia cutis congenita recessive
aplasia cutis myopia
apo a1 deficiency
apolipoproteine c2 deficiency
apparent mineralocorticoid excess
apple peel syndrome
apudoma
arachnodactyly ataxia cataract aminoaciduria mental retardation
arachnodactyly mental retardation dysmorphism
arachnodactyly ossification abnormal mental retardation
arachnoid cyst
arbovirosis
arbovirus fever
arc syndrome
aredyld syndrome
arginase deficiency
argininemia
argininosuccinase deficiency
argininosuccinate synthetase deficiency
argininosuccinicaciduria
arhinia choanal atresia microphthalmia
arnold chiari malformation
arnold stckler bourne syndrome
aromatic l amino acid decarboxylase deficiency
arrhinia
arroyo garcia cimadevilla syndrome
arrythmogenic right ventricular dysplasia, familial
arterial dysplasia
arterial tortuosity
arterio hepatic dysplasia
arthritis short stature deafness
arthrogryposis congenital myopathic seizures
arthrogryposis due to muscular dystrophy
arthrogryposis ectodermal dysplasia other anomalies
arthrogryposis epileptic seizures migrational brain disorder
arthrogryposis iugr thoracic dystrophy
arthrogryposis like disorder
arthrogryposis like hand anomaly sensorineural
arthrogryposis multiplex congenita cns calcifications
arthrogryposis multiplex congenita distal
arthrogryposis multiplex congenita distal type 1
arthrogryposis multiplex congenita distal type 2
arthrogryposis multiplex congenita lissencephaly
arthrogryposis multiplex congenita neurogenic type
arthrogryposis multiplex congenita pulmonary hypoplasia
arthrogryposis multiplex congenita whistling face
arthrogryposis ophtalmoplegia retinopathy
arthrogryposis renal dysfunction cholestasis
arthrogryposis renal dysfunction cholestasis syndrome
arthrogryposis spinal muscular atrophy
arthroophtalmopathy hereditary progressive
arthropathy camptodactyly syndrome
arthropathy progressive pseudorheumatoid of childhood
arylsulfatase a deficiency
arylsulfatase a pseudodeficiency
arylsulfatase b deficiency
asbestos intoxication
asbestosis
ascher syndrome
aspartoacylase deficiency
aspartylglucosaminidase deficiency
aspartylglycosaminuria
asped syndrome
asperger syndrome
aspergillosis
asphyxiating thoracic dystrophy of the newborn
asplenia syndrome
asplenia with cardiovascular anomalies
asplenia with cystic liver kidney and pancreas
assas syndrome
astrocytoma
asymmetric crying facies
ataxia deafness optic atrophy lethal
ataxia deafness reardon type
ataxia deafness retardation syndrome
ataxia diabetes goiter gonadal insufficiency
ataxia hypogonadism choroidal dystrophy
ataxia lactic acidosis 1
ataxia myoclonies macular degeneration
ataxia ocular motor apraxia
ataxia opsoclonus myoclonus
ataxia optic atrophy hearing loss
ataxia pancytopenia syndrome
ataxia periodic vestibulocerebellar
ataxia photosensitivity short stature
ataxia spastic congenital miosis
ataxia tapetoretinal degeneration
ataxia telangiectasia
ataxia tonic upward deviation of eyes
atelencephaly
atelosteogenesis type 1
atelosteogenesis type 2
atherosclerosis epilepsy deafness
atkin flaitz patil smith syndrome
atp synthetase deficiency
atransferrinemia
atresia of small intestin
atresia of urethra
atrial cardiomyopathy with heart block
atrial fibrillation, familial
atrial myxoma, familial
atrial septal defect
atrial septal defect atrioventricular conduction
atrial septal defect dominant form
atrial tachyarrhythmia with short pr interval
atrichia mental and growth retardation
atrio-ventricular and ventriculo-arterial double discordia
atrioventricular defect blepharophimosis radial defects
aughton hufnagle syndrome
aughton sloan milad syndrome
aughton syndrome
aur syndrome
aural atresia multiple congenital anomalies mental retardation
auralcephalosyndactyly
auricular flutter
auriculoosteodysplasia beals type
ausems wittebol post hennekam syndrome
autism
autoimmune enteropathy haemolytic anaemia polyendocrinopathy
autoimmune lymphoproliferative syndrome
autoimmunization anti factor 8
autoimmunization anti factor VIIIc
autosomic dominant cerebellar ataxia
autosomic dominant spinocerebellar ataxia
axenfeld rieger anomaly hydrocephaly skeletal abnormalities
axial mesodermal dysplasia spectrum
axial osteosclerosis
ayazi syndrome
azoospermia sinopulmonary infections

––––––––––––––-

[pagebreak]
-B-

Babesiosis
bader syndrome
baelz syndrome
bagatelle cassidy syndrome
bahemuka brown syndrome
baker vinters syndrome
balantidiasis
ballard syndrome
ballinger-wallace syndrome
bamboo hair syndrome
bamforth syndrome
bangstad syndrome
banki syndrome
bannayan zonana syndrome
baraitser brett piesowicz syndrome
baraitser burn fixen syndrome
baraitser burn fixen syndrome
baraitser rodeck garner syndrome
barakat syndrome
barber say syndrome
bardet biedl syndrome
bardet biedl syndrome type 1
bardet biedl syndrome type 2
bardet biedl syndrome type 3
bardet biedl syndrome type 4
barnicoat baraitser syndrome
barrett esophagus
barrow fitzsimmons syndrome
bart pumphrey syndrome
barth syndrome
bartsocas papa syndrome
bartter syndrome
bartter syndrome antenatal form
bartter syndrome antenatal hypercalciuric form
basal cell nevus anodontia abnormal bone mineralization
basan syndrome
basaran yilmaz syndrome
basilar impression primary
Bassen-Kornzweig syndrome
bassoe syndrome
battaglia neri syndrome
batten syndrome
baughman syndrome
bazex dupre christol syndrome
bazopoulou kyrkanidou syndrome
bbb syndrome
bbb syndrome x linked
bd syndrome
beals hecht syndrome
beals syndrome
bean syndrome
beardwell syndrome
beare stevenson syndrome
becker disease
beckwith wiedemann syndrome
beemer ertbruggen syndrome
beemer langer syndrome
behcet syndrome
behr syndrome
behrens baumann dust syndrome
beighton goldberg hof syndrome
bell’s palsy
bellini chiumello rinoldi syndrome
ben ari shuper mimouni syndrome
benallegue lacete syndrome
bencze syndrome
benign autosomal dominant myopathy
benign chronic pemphigus familial of Hailey-Hailey
benign familial infantile convulsions
benign familial infantile epilepsy
bennion patterson syndrome
bentham driessen hanveld syndrome
beradinelli syndrome
berdon syndrome
berger disease
berk tabatznik syndrome
bernard soulier syndrome
besnier-boeck-schaumann disease
best disease
beta galactosidase deficiency
beta glucuronidase deficiency
beta mannosidosis
beta thalassemia
Beta-sarcoglycanopathy
betaketothiolase deficiency
bethlem myopathy
beveridge syndrome
bhaskar jagannathan syndrome
bianchine lewis syndrome
bickel fanconi glycogenosis
bicuspid aortic valve
bids syndrome
biemond syndrome
biemond syndrome type 1
biemond syndrome type 2
biermer disease
bifid nose dominant
bifunctional enzyme deficiency
bilateral renal agenesis
bilateral renal agenesis dominant type
biliary malformation renal tubular insufficiency
bilirubin uridinediphosphate glucuronosylyltransferase deficiency
billard toutain maheut syndrome
billet bear syndrome
binder syndrome
bindewald ulmer muller syndrome
binswanger disease
biotinidase deficiency
bird headed dwarfism montreal type
Birt-Hogg-Dube syndrome
bixler christian gorlin syndrome
bjornstad syndrome
Bjornstadt syndrome
blaichman syndrome
blastogenesis defect
blepharo cheilo dontic syndrome
blepharo facio skeletal syndrome
blepharo naso facial syndrome van maldergem type
blepharonasofacial malformation syndrome
blepharophimosis epicanthus inversus and ptosis
blepharophimosis nasal groove growth retardation
blepharophimosis ptosis esotropia syndactyly short stature
blepharophimosis ptosis syndactyly mental retardation
blepharophimosis radioulnar synostosis
blepharophimosis syndrome ohdo type
blepharophimosis telecanthus microstomia
blepharoptosis aortic anomaly
blepharoptosis cleft palate ectrodactyly dental anomalies
blepharoptosis myopia ectopia lentis
blepharospasm
blethen wenick hawkins syndrome
blomstrand syndrome
bloom syndrome
blount disease
blue cone monochromatism
blue rubber bleb nevus
bod syndrome
boeck sarcoid
bone dysplasia azouz type
bone dysplasia corpus callosum agenesis
bone dysplasia lethal holmgren type
bone dysplasia moore type
bone fragility craniosynostosis proptosis hydrocephalus
bone marrow failure neurologic abnormalities
bonneau beaumont syndrome
bonneman meinecke reich syndrome
bonnemann meinecke syndrome
book syndrome
boomerang dysplasia
booth haworth dilling syndrome
bor syndrome
borjeson forssman lehmann syndrome
bork stender schmidt syndrome
borreliosis
borrone di rocco crovato syndrome
boscherini galasso manca bitti syndrome
bosma henkin christiansen syndrome
Bothriocephalosis
botulism
boucher neuhauser syndrome
boudhina yedes khiari syndrome
bourneville syndrome
bourneville syndrome type 1
bourneville syndrome type 2
bouwes bavinck weaver ellis syndrome
bowen conradi syndrome
bowen hutterite syndrome
bowen syndrome
bowing congenital short bones
bowing of long bones congenital
boylan dew greco syndrome
brachioskeletogenital syndrome
brachman de lange syndrome
brachycephalofrontonasal dysplasia
brachycephaly deafness cataract mental retardation
brachydactylie types b et e combined
brachydactylous dwarfism mseleni type
brachydactyly absence of distal phalanges
brachydactyly anonychia
brachydactyly clinodactyly
brachydactyly deafness skeletal anomalies
brachydactyly dwarfism mental retardation
brachydactyly elbow wrist dysplasia
brachydactyly hypertension
brachydactyly long thumb type
brachydactyly mesomelia mental retardation heart defects
brachydactyly mohr wriedt type
brachydactyly nystagmus cerebellar ataxia
brachydactyly preaxial hallux varus
brachydactyly scoliosis carpal fusion
brachydactyly small stature face anomalies
brachydactyly smorgasbord type
brachydactyly symphalangism syndrome
brachydactyly temtamy type
brachydactyly tibial hypoplasia
brachydactyly type a1
brachydactyly type a2
brachydactyly type a3
brachydactyly type a4
brachydactyly type a5 nail dysplasia
brachydactyly type a6
brachydactyly type a7
brachydactyly type b
brachydactyly type c
brachydactyly type e
brachymesomelia renal syndrome
brachymesophalangy 2 and 5
brachymesophalangy mesomelic short limbs osseous anomalies
brachymesophalangy type 2
brachymetapody anodontia hypotrichosis albinoidism
brachymorphism onychodysplasia dysphalangism syndrome
brachyolmia
brachyolmia recessive hobaek type
brachyolmia toledo type
brachytelephalangy characteristic facies kallmann syndrome
braddock carey syndrome
braddock jones superneau syndrome
brain cavernous angioma
branched chain ketoaciduria
branchial arch defects
branchial arch syndrome x linked
branchial dysplasia mental retardation inguinal hernia
branchio oculo facial syndrome
branchio oculo facial syndrome hing type
branchio oto renal syndrome
braun bayer syndrome
breast and ovarian cancer
breast cancer familial
breast cancer type 1
breast cancer type 2
breast cancer type 3
brittle bone disease
brittle bone syndrome lethal type
brittle cornea syndrome
brittle hair mental deficit
broad-betalipoproteinemia
brodie chole griffin syndrome
bronchiectasis oligospermia
bronchiolitis obliterans organizing pneumonia
bronchiolitis obliterans with obstructive pulmonary disease
bronchogenic cyst
bronchopulmonar amyloidosis
bronspiegel zelnick syndrome
bruce winship syndrome
brucellosis
bruck syndrome
Brugada syndrome
brunner winter syndrome
brunoni syndrome
bruton type agammaglobulinemia
bruyn scheltens syndrome
budd-chiari syndrome
bulbospinal amyotrophy X linked
bull dog syndrome
bull nixon syndrome
bullous dystrophy macular type
bullous ichtyosiform erythroderma congenita
bullous pemphigoid
buntinx lormans martin syndrome
burkitt lymphoma
burn goodship syndrome
burnett schwartz berberian syndrome
buschke fischer brauer syndrome
buschke ollendorff syndrome
bustos simosa pinto cisternas syndrome
buttiens fryns syndrome
butyrylcholinesterase deficiency
byler disease
Bebe collodion syndrome

––––––––––––––-

[pagebreak]
-C-

c syndrome
cacchi ricci disease
cach syndrome
cadasil
cafe au lait spots syndrome
caffey disease
cahmr syndrome
calcinosis raynaud phenomenon sclerodactyly telangiectasis
calderon gonzalez cantu syndrome
calloso genital dysplasia
callus disease
calpainopathy
calvarial hyperostosis
camera lituania cohen syndrome
camera stella syndrome
camfak syndrome
campomelia cumming type
campomelic dysplasia
camptobrachydactyly
camptocormia
camptocormism
camptodactyly fibrous tissue hyperplasia skeletal dysplasia
camptodactyly joint contractures facial skeletal defects
camptodactyly overgrowth unusual facies
camptodactyly syndrome guadalajara type 1
camptodactyly syndrome guadalajara type 2
camptodactyly taurinuria
camptodactyly vertebral fusion
camptomelic dwarfism
camurati engelmann disease
canale-smith syndrome
canavan disease
candidiasis familial chronic
cantalamessa baldini ambrosi syndrome
cantrell haller ravitsch syndrome
cantrell pentalogy
cantu sanchez corona fragoso syndrome
cantu sanchez corona garcia syndrome
cantu sanchez corona hernandes syndrome
Capillary leak syndrome with monoclonal gammopathy
capos syndrome
caratolo cilio pessagno syndrome
carbamoylphosphate synthetase deficiency
carbohydrate deficient glycoprotein syndrome
carbohydrate deficient glycoprotein syndrome type 1a
carbohydrate deficient glycoprotein syndrome type 1b
carbohydrate deficient glycoprotein syndrome type 1c
carbohydrate deficient glycoprotein syndrome type 2
carbohydrate deficient glycoprotein syndrome type 3
carbohydrate deficient glycoprotein syndrome type 4
carbon baby syndrome
carcinoid tumor
cardiac and laterality defects
cardiac conduction defect familial
cardiac diverticulum
cardiac malformation
cardiac valvular dysplasia x-linked
cardiofacial syndrome short limbs
cardiofaciocutaneous syndrome
cardiogenital syndrome
cardiomelic syndrome stratton koehler type
cardiomyopathic lentiginosis
cardiomyopathy cataract hip spine disease
cardiomyopathy diabetes deafness
cardiomyopathy dilated with conduction defect
cardiomyopathy dilated with conduction defect type 1
cardiomyopathy dilated with conduction defect type 2
cardiomyopathy due to anthracyclines
cardiomyopathy familial dilated
cardiomyopathy familial hypertrophic
cardiomyopathy hearing loss type trna lys gene mutation
cardiomyopathy hypogonadism metabolic anomalies
cardiomyopathy infantile fatal x linked
cardiomyopathy spherocytosis
cardioskeletal myopathy neutropenia
carey fineman ziter syndrome
carnevale canun mendoza syndrome
carnevale hernandez castillo syndrome
carnevale krajewska fischetto syndrome
carney syndrome
carnitine deficiency myopathic
carnitine palmitoyl transferase 1 deficiency
carnitine palmitoyl transferase 2 deficiency
carnitine systemic deficiency
carnitine transporter deficiency
carnitine-acylcarnitine translocase deficiency
carnosinase deficiency
carnosinemia
carpal deformity migrognathia microstomia
carpenter hunter type
carpenter syndrome
carpo tarsal osteochondromatosis
carpo tarsal osteolysis recessive
carrington syndrome
cartilage hair hypoplasia like syndrome
cartilage hair hypoplasia syndrome
cartwright nelson fryns syndrome
cassia stocco dos santos syndrome
castleman maladie
castro gago pombo novo syndrome
cat eye syndrome
cat rodrigues syndrome
catalase deficiency
cataract aberrant oral frenula growth retardation
cataract alopecia sclerodactyly
cataract anterior polar dominant
cataract ataxia deafness
cataract cardiomyopathy
cataract congenital autosomal dominant
cataract congenital dominant non nuclear
cataract congenital ichthyosis
cataract congenital volkmann type
cataract congenital with microphthalmia
cataract deafness hypogonadism
cataract hutterite type
cataract hyperostosis frontalis dislocating patella
cataract hypertrichosis mental retardation
cataract mental retardation anal atresia urinary defects
cataract mental retardation hypogonadism
cataract microcornea syndrome
cataract microcornea x linked
cataract microphthalmia septal defect
cataract skeletal anomalies
cataract total congenital
catch 22
catel manzke syndrome
caudal appendage deafness
caudal duplication
caudal dysgenesis familial type
caudal regression sequence
cayler syndrome
cca syndrome
ccge syndrome
cdg syndrome
cdg syndrome type 1a
cdg syndrome type 1b
cdg syndrome type 1c
cdg syndrome type 2
cdg syndrome type 3
cdg syndrome type 4
cdk4 linked melanoma
cecato de lima pinheiro syndrome
celiac disease
celiac disease epilepsy occipital calcifications
cenani lenz syndactylism
cennamo gangemi syndrome
central core myopathy
centromeric instability immunodeficiency syndrome
centrotemporal epilepsy
cephalopolysyndactyly
cephaloskeletal dysplasia
ceramidase deficiency
cerebellar ataxia areflexia pes cavus optic atrophy and sensorineural hearing loss
cerebellar ataxia dominant pure
cerebellar ataxia early onset with retained tendon reflex
cerebellar ataxia ectodermal dysplasia
cerebellar ataxia hypogonadotropic hypogonadism
cerebellar ataxia infantile with progressive external ophtalmoplegia
cerebellar ataxia x linked
cerebellar hypoplasia
cerebellar hypoplasia endosteal sclerosis
cerebellar hypoplasia tapetoretinal degeneration
cerebelloolivary atrophy
cerebelloparenchymal disorder 3
cerebellum agenesis hydrocephaly
cerebral calcification cerebellar hypoplasia
cerebral calcifications opalescent teeth phosphatiuria
cerebral cavernous malformation
cerebral cavernous malformations
cerebral gigantism
cerebral gigantism jaw cysts
cerebral gigantism nevo type
cerebral malformations hypertrichosis claw hands
cerebro costo mandibular syndrome
cerebro facio articular syndrome
cerebro facio thoracic dysplasia
cerebro oculo dento auriculo skeletal syndrome
cerebro oculo genital syndrome
cerebro oculo skeleto renal syndrome
cerebro reno digital syndrome
cerebroarthrodigital syndrome
cerebrohepatorenal syndrome
cerebrooculofacioskeletal syndrome
cerebroretinal vasculopathy
ceroid lipofuscinose neuronal
ceroid lipofuscinose neuronal 1 infantile
ceroid lipofuscinose neuronal 2 late infantile
ceroid lipofuscinose neuronal 3 juvenile
ceroid lipofuscinose neuronal 4 adult type
ceroid lipofuscinose neuronal 5 late infantile finnish variant
ceroid lipofuscinose neuronal 6 late infantile
cervical hypertrichosis neuropathy
cervical hypertrichosis peripheral neuropathy
cervical ribs sprengel anomaly polydactyly
cervical vertebral fusion
cervicooculoacoustic syndrome
cfc syndrome
cfc syndrome
chagas disease
Chanarin disease
chands syndrome
chang davidson carlson syndrome
chaotic atrial tachycardia
char douglas dungan syndrome
charcot disease
charcot marie tooth disease
charcot marie tooth disease deafness dominant type
charcot marie tooth disease deafness mental retardation
charcot marie tooth disease deafness recessive type
charcot marie tooth disease guadalajara neuronal type
charcot marie tooth disease intermediate form
charcot marie tooth disease neuronal type a
charcot marie tooth disease neuronal type b
charcot marie tooth disease neuronal type d
charcot marie tooth disease type 1a
charcot marie tooth disease type 1b
charcot marie tooth disease type 1c
charcot marie tooth disease type 2a
charcot marie tooth disease type 2b
charcot marie tooth disease type 2c
charcot marie tooth disease type 2d
charcot marie tooth neuropathy type 4a
charcot marie tooth neuropathy x linked recessive type 2
charcot marie tooth peroneal muscular atrophy, x linked type 1
charcot marie tooth type 1 aplasia cutis congenita
charcot marie tooth type 4b
charcot marie tooth x linked recessive type 3
charge association
charge like syndrome
charlevoix disease
charlie m syndrome
chediak higashi like syndrome
chediak higashi syndrome
cheilitis glandularis
chemke oliver mallek syndrome
chen kung ho kaufman mcalister syndrome
cherubism
cherubism gingival fibromatosis mental retardation
cherubism optic atrophy short stature
chiari type 1 malformation
CHILD syndrome
childhood ataxia with diffuse central nervous system hypomyelination
chime neuroectodermal dysplasia
chitayat haj chahine syndrome
chitayat meunier hodgkinson syndrome
chitayat moore del bigio syndrome
chitty hall baraitser syndrome
chitty hall webb syndrome
choanal atresia deafness cardiac defects dysmorphism
choledochal cyst hand malformation
cholera
cholestasis lymphedema syndrome
cholestasis pigmentary retinopathy cleft palate
cholestasis progressive familial intrahepatic
cholestasis progressive familial intrahepatic 1
cholestasis progressive familial intrahepatic 2
cholestasis progressive familial intrahepatic 3
cholestatic jaundice renal tubular insufficiency
cholesterol ester storage disease
chondrocalcinosis familiar articular
chondrodysplasia calcificans metaphysealis
chondrodysplasia lethal greenberg rimoin type
chondrodysplasia lethal neonatal
chondrodysplasia lethal recessive
chondrodysplasia pseudohermaphrodism syndrome
chondrodysplasia punctata
chondrodysplasia punctata brachytelephalangic
chondrodysplasia punctata conradi hunermann type
chondrodysplasia punctata ocular colobomata
chondrodysplasia punctata rhizomelic form
chondrodysplasia punctata sheffield type
chondrodysplasia punctata x linked dominant
chondrodysplasia punctata x linked recessive
chondrodysplasia situs inversus imperforate anus polydactyly
chondrodystrophia calcifians punctata
chondrodystrophy advanced carpotarsal ossification
chondrodystrophy sensorineural deafness
chondroectodermal dysplasia
chondromalacia
chondrysplasia punctata humero metacarpal type
chordoma
chorea acanthocytosis
chorea familial benign
choreoacanthocytosis amyotrophic
choreoathetosis familial paroxysmal
chorioretinopathy birdshot type
chorioretinopathy dominant form microcephaly
choroid plexus cyst
choroidal atrophy alopecia
choroideremia
choroideremia deafness obesity
choroideremia hypopituitarism
choroido cerebral calcification syndrome infantile form
christ siemens touraine syndrome
christian demyer franken syndrome
christian johnson angenieta syndrome
christian syndrome
christianson fourie syndrome
Chromomycosis
chromosome 1 ring
chromosome 10 ring
chromosome 12 ring
chromosome 14 ring
chromosome 18 ring
chromosome 19 ring
chromosome 20 ring
chromosome 21 ring
chromosome 22 ring
chromosome 4 ring
chromosome 6 ring
chromosome 7 ring
chromosome 8 ring
chronic autoimmune hepatitis
chronic berylliosis
chronic demyelinizing neuropathy with igm monoclonal gammapathy
chronic fatigue syndrome
chronic hiccup
chronic inflammatory rheumatism juvenile
chronic myeloid leukemia
chronic polyradiculonevritis
chronic, infantile, neurological, cutaneous, articular syndrome
chudley lowry hoar syndrome
chudley rozdilsky syndrome
churg-strauss syndrome
chylous ascites
ciliary discoordination due to random ciliary orientation
ciliary dyskinesia bronchiectasis
ciliary dyskinesia due to transposition of ciliary microtubules
cilliers beighton syndrome
cinca syndrome
circumscribed cutaneous aplasia of the vertex
circumscribed disseminated keratosis jadassohn lewandowsky type
citrullinemia
Clarkson disease
clayton smith donnai syndrome
cleft hand absent tibia
cleft limb heart malformation syndrome
cleft lip and or palate with mucous cysts of lower lip
cleft lip and palate malrotation cardiopathy
cleft lip palate abnormal thumbs microcephaly
cleft lip palate deafness sacral lipoma
cleft lip palate dysmorphism kumar type
cleft lip palate ectrodactyly
cleft lip palate facial eye heart intestinal anomalies
cleft lip palate incisor and finger anoamlies
cleft lip palate lip pits limb deficiency
cleft lip palate mental retardation corneal opacities
cleft lip palate oligodontia syndactyly pili torti
cleft lip palate pituitary deficiency
cleft lip palate tetraphocomelia
cleft lip retinopathy
cleft lip with or without cleft palate
cleft lower lip cleft lateral canthi chorioretinal degeneration
cleft palate cardiac defect ectrodactyly
cleft palate colobomata radial synostosis deafness
cleft palate heart disease polydactyly absent tibiae
cleft palate large ears small head
cleft palate lateral synechia syndrome
cleft palate short stature vertebral anomalies
cleft palate stapes fixation oligodontia
cleft palate x linked
cleft tongue syndrome
cleft upper lip median cutaneous polyps
clefting ectropion conical teeth
cleido rhizomelic syndrome
cleidocranial dysostosis
cleidocranial dysplasia
cleidocranial dysplasia micrognathia absent thumbs
cloacal exstrophy
clouston syndrome
cloverleaf skull bone dysplasia
cloverleaf skull generalised bone dysplasia
cloverleaf skull micromelia thoracic dysplasia
cloverleaf skull syndrome
cmv antenatal infection
coach syndrome
coarctation of aorta dominant
coarse face hypotonia constipation
coats disease
cocaine antenatal infection
cockayne syndrome
cockayne syndrome type 1
cockayne syndrome type 2
cockayne syndrome type 3
cockayne touraine type epidermolysis bullosa simplex
codas syndrome
coenzyme q cytochrome c reductase deficiency of
coffin lowry syndrome
coffin siris syndrome
coffin syndrome
cofs syndrome
cogan’s syndrome
cohen hayden syndrome
cohen lockood wyborney syndrome
cohen syndrome
colavita kozlowski syndrome
cole carpenter syndrome
coleman randall syndrome
collins pope syndrome
collins sakati syndrome
coloboma chorioretinal cerebellar vermis aplasia
coloboma hair abnormality
coloboma of choroid and retina
coloboma of eye lens
coloboma of iris
coloboma of lens ala nasi
coloboma of macula
coloboma of macula type b brachydactyly
coloboma of optic papilla
coloboma porencephaly hydronephrosis
coloboma uveal with cleft lip palate and mental retardation
coloboma, ocular
colobomata unilobar lung heart defect
colobomatous microphthalmia
colobomatous microphthalmia heart disease hearing loss
colon cancer familial nonpolyposis
colonic atresia
colver steer godman syndrome
combarros calleja leno syndrome
common mesentery
complement component 2 deficiency
complement component receptor 1
complete atrioventricular canal
complex 1 mitochondrial respiratory chain deficiency of
complex 2 mitochondrial respiratory chain deficiency of
complex 3 mitochondrial respiratory chain deficiency of
complex 4 mitochondrial respiratory chain deficiency of
complex 5 mitochondrial respiratory chain deficiency of
conductive deafness malformed external ear
conductive deafness micrognathia
cone dystrophy x linked
cone rod dystrophy
cone rod dystrophy amelogenesis imperfecta
congenital absence of the uterus and vagina
congenital adrenal hyperplasia
congenital adrenal hyperplasia type 1
congenital adrenal hyperplasia type 2
congenital adrenal hyperplasia type 3
congenital adrenal hyperplasia type 4
congenital adrenal hyperplasia type 5
congenital alopecia x linked
congenital aneurysms of the great vessels
congenital benign spinal muscular atrophy dominant
congenital bronchobiliary fistula
congenital central alveolar hypoventilation
congenital centronuclear myopathy
congenital craniosynostosis maternal hyperthyroidism
congenital cystic eye multiple ocular and intracranial anomalies
congenital dyserythropoietic anemia
congenital dyserythropoietic anemia type 1
congenital dyserythropoietic anemia type 2
congenital dyserythropoietic anemia type 3
congenital erythropoiesis
congenital fiber type disproportion
congenital heart disease ptosis hypodontia craniosynostosis
congenital heart disease radio ulnar synostos mental retardation
Congenital Hemidysplasia with Ichtyosiform erythroderma and Limbs Defects
congenital hypothyroidism
congenital hypotrichosis milia
congenital ichthyosis microcephalus quadriplegia
congenital ichtyosiform erythroderma
congenital intrinsic factor deficiency
congenital lobar emphysema
congenital lymphedema
congenital megalo-ureter
congenital mesoblastic nephroma
congenital microvillous atrophy
congenital mitral malformation
congenital mitral stenosis
congenital muscular dystrophy syringomyelia
congenital nephrotic syndrome finnish type
congenital retinal telangiectasia
congenital short bowel
congenital short femur
congenital stenosis of cervical medullary canal
congenital unilateral pulmonary hypoplasia
congenital vagal hyperreflexivity
congenital wooly hair
connective tissue dysplasia spellacy type
connexin 26 anomaly
conotruncal heart malformation
conradi hunermann syndrome
constrictive bronchiolitis
continuous muscle fiber activity hereditary
continuous spike-wave during slow sleep syndrome
contractural arachnodactyly congenital
contractures ectodermal dysplasia cleft lip palate
contractures hyperkeratosis lethality
contractures of feet muscle atrophy oculomotor apraxia
convulsions benign familial neonatal
convulsions benign familial neonatal dominant form
cooks syndrome
cooley anemia
coper transport disease
copper deficiency familial benign
cormier rustin munnich syndrome de
corneal anesthesia deafness mental retardation
corneal cerebellar syndrome
corneal crystals myopathy neuropathy
corneal dystrophy epithelial short stature
corneal dystrophy ichthyosis microcephaly mental retardation
corneal dystrophy perceptive deafness
corneal dystrophy pigmentary anomaly malabsorption
cornelia de lange syndrome
corneodermatoosseous syndrome
coronal synostosis syndactyly jejunal atresia
coronaro-cardiac fistula
coronary arteries congenital malformation
corpus callosum agenesis
corpus callosum agenesis double urinary collecting system
corpus callosum agenesis neuronopathy
corpus callosum agenesis of blepharophimosis robin
corpus callosum agenesis of with chorioretinal abnormality
corpus callosum agenesis polysyndactyly
corpus callosum dysgenesis cleft spasm
corpus callosum dysgenesis hypopituitarism
corpus callosum dysgenesis x linked recessive
corrected transposition
corsello opitz syndrome
cortada koussef matsumoto syndrome
cortes lacassie syndrome
cortical blindness mental retardation polydactyly
cortical hyperostosis syndactyly
corticobasal degeneration
costello syndrome
costocoracoid ligament congenitally short
costovertebral segmentation defect mesomelia
cote adamopoulos pantelakis syndrome
cote katsantoni syndrome
cousin walbraum cegarra syndrome
covesdem syndrome
cowchock wapner kurtz syndrome
cowden syndrome
coxoauricular syndrome
cramer niederdellmann syndrome
Crandall syndrome
crane heise syndrome
cranio fronto nasal dysplasia poland anomaly
cranio osteoarthropathy
cranioacrofacial syndrome
craniocarpotarsal dystrophy
craniocerebellocardiac dysplasia
craniodiaphyseal dysplasia
craniodigital syndrome mental retardation
cranioectodermal dysplasia
craniofacial and osseous defects mental retardation
craniofacial and skeletal defects
craniofacial deafness hand syndrome
craniofacial digital genital anomalies
craniofacial dysostosis arthrogryposis progeroid appearance
craniofacial dysostosis genital dental cardiac anomalies
craniofacial dyssynostosis
craniofaciocardioskeletal syndrome
craniofaciocervical osteoglyphic dysplasia
craniofrontonasal dysplasia
craniofrontonasal syndrome teebi type
craniometaphyseal dysplasia dominant type
craniometaphyseal dysplasia recessive type
craniomicromelic syndrome
craniostenosis
craniostenosis cataract
craniostenosis with congenital heart disease mental retardation
craniosynostosis
craniosynostosis alopecia brain defect
craniosynostosis arthrogryposis cleft palate
craniosynostosis autosomal dominant
craniosynostosis brachydactyly
craniosynostosis cleft lip palate arthrogryposis
craniosynostosis contractures cleft
craniosynostosis dandy walker hydrocephalus
craniosynostosis exostoses nevus epibulbar dermoids
craniosynostosis fibular aplasia
craniosynostosis fontaine type
craniosynostosis herrmann opitz type
craniosynostosis hydrancephaly thumb aplasia
craniosynostosis maroteaux fonfria type
craniosynostosis mental retardation clefting syndrome
craniosynostosis mental retardation heart defects
craniosynostosis midfacial hypoplasia foot abnormalities
craniosynostosis philadelphia type
craniosynostosis radial aplasia syndrome
craniosynostosis radial aplasia syndrome
craniosynostosis radial aplasia type imaizumi
craniosynostosis synostoses hypertensive nephropathy
craniosynostosis warman type
craniotelencephalic dysplasia
craniotubular syndrome
crash syndrome
crawfurd syndrome
creatine deficiency
Creeping disease
crest syndrome
cretinism athyreotic
creutzfeldt-jakob disease
cri du chat syndrome
crigler najjar syndrome
crisponi syndrome
criss cross
criss cross
criswick schepens syndrome
crohn disease
crome syndrome
cronkhite canada syndrome
cross syndrome
crossed polydactyly type 1
crossed polysyndactyly
crouzon craniofacial dysostosis
crouzon disease
crow fukase syndrome
cryoglobulinemia
cryptococcosis
cryptogenic organized pneumopathy
cryptomicrotia brachydactyly syndrome excess fingertip arch
cryptophthalmos syndrome
cryptorchidism arachnodactyly mental retardation
cryptosporidiosis
culler jones syndrome
curly hair ankyloblepharon nail dysplasia syndrome
currarino triad
curry hall syndrome
curry hall syndrome
curry jones syndrome
Curtaneous larva migrans
Curth-Macklin ichtyosis
curtis rogers stevenson syndrome
cushing syndrome familial
cutaneous albinism hermine phenotype
cutaneous lymphoma
cutaneous photosensitivity colitis lethal
cutaneous vascularitis
cutis gyratum acanthosis nigricans craniosynostosis
cutis laxa
cutis laxa corneal clouding mental retardation
cutis laxa dominant type
cutis laxa joint laxity retarded development
cutis laxa osteoporosis
cutis laxa recessive type 1
cutis laxa recessive type 2
cutis laxa x linked
cutis marmorata telangiectatica congenita
cutis verticis gyrata
cutis verticis gyrata
cutis verticis gyrata mental deficiency
cutis verticis gyrata thyroid aplasia mental retardation
cutler bass romshe syndrome
Cyclosporosis
cypress facial neuromusculosqueletal syndrome
cystathionine beta synthase deficiency
cystathioninuria
cystic adenomatoid malformation of the lung
cystic angiomatosis of bone, diffuse
cystic fibrosis
cystic fibrosis gastritis megaloblastic anaemia
cystic hamartoma of lung and kidney
cystic hygroma lethal cleft palate
cystic medial necrosis of aorta
cysticercosis
cystin transport protein defect of
cystinosis
cystinuria
cystinuria lysinuria
cytochrome c oxidase deficiency of
cytomegalovirus antenatal infection
cytomegalovirus infection congenital
cytoplasmic body myopathy
czeizel brooser syndrome
czeizel losonci syndrome
czeizel syndrome

––––––––––––––-

[pagebreak]
-D-

d 2-hydroxyglutaricaciduria
d ercole syndrome
d-glycerate dehydrogenase deficiency
d-glycerate kinase deficiency
d-glycericacidemia
da silva syndrome
dacryocystitis osteopoikilosis
daentl townsend siegel syndrome
dahlberg borer newcomer syndrome
daish hardman lamont syndrome
dandy walker facial hemangioma
dandy walker macrocephaly
dandy walker malformation
dandy walker malformation postaxial polydactyly
dandy walker syndrome recessive form
dandy walker syndrome recessive x linked
daneman davy mancer syndrome
darier disease
davenport donlan syndrome
david syndrome
davis lafer syndrome
de barsy syndrome
de hauwere leroy adriaenssens syndrome
De la Chapelle syndrome
de morsier syndrome
de sanctis cacchione syndrome
de smet fabry fryns syndrome de
deaf blind hypopigmentation
deafness alopecia hypogonadism
deafness autosomal dominant nonsyndromic sensorineural
deafness autosomal dominant nonsyndromic sensorineural dfna1 linked
deafness autosomal dominant nonsyndromic sensorineural dfna10 linked
deafness autosomal dominant nonsyndromic sensorineural dfna11 linked
deafness autosomal dominant nonsyndromic sensorineural dfna12 linked
deafness autosomal dominant nonsyndromic sensorineural dfna13 linked
deafness autosomal dominant nonsyndromic sensorineural dfna14 linked
deafness autosomal dominant nonsyndromic sensorineural dfna15 linked
deafness autosomal dominant nonsyndromic sensorineural dfna2 linked
deafness autosomal dominant nonsyndromic sensorineural dfna3 linked
deafness autosomal dominant nonsyndromic sensorineural dfna4 linked
deafness autosomal dominant nonsyndromic sensorineural dfna5 linked
deafness autosomal dominant nonsyndromic sensorineural dfna6 linked
deafness autosomal dominant nonsyndromic sensorineural dfna7 linked
deafness autosomal dominant nonsyndromic sensorineural dfna9 linked
deafness blindness dystonia fractures
deafness conductive ptosis skeletal anomalies
deafness conductive stapedial ear malformation facial palsy
deafness congenital onychodystrophy recessive
deafness craniofacial syndrome
deafness dominant indonesian type
deafness enamel hypoplasia nail defects
deafness epiphyseal dysplasia short stature
deafness goiter stippled epiphyses
deafness hyperuricemia neurologic ataxia
deafness hypogonadism syndrome
deafness hypospadias metacarpal and metatarsal synostosis
deafness mesenteric diverticula of small bowel neuropathy
deafness mixed with perilymphatic gusher x linked
deafness nephritis ano rectal malformation
deafness neurosensory pituitary dwarfism
deafness nonsyndromic connexin 26 linked
deafness oligodontia syndrome
deafness onychodystrophy dominant form
deafness optic atrophy syndrome
deafness peripheral neuropathy arterial disease
deafness progressive cataract autosomal dominant
deafness progressive high tone neural
deafness skeletal dysplasia lip granuloma
deafness symphalangism
deafness vitiligo achalasia
deafness white hair contractures papillomas
deafness x linked
deafness x linked (dfn1)
deafness x linked (dfn2)
deafness x linked (dfn3)
deafness x linked (dfn4)
deafness x linked (dfn6)
deafness-tubular acidosis-anemia
deal barratt dillon syndrome
deciduous skin
defect in synthesis of adenosylcobalamin
defective apolipoprotein-b100
defective expression of hla class 2
Degos ‘en cocarde’ erythrokeratoderma
Degos’s malignant atrophic papulosis
dehydratase deficiency
dehydrated hereditary stomatocytosis
dejerine klumpke paralysis
delayed membranous cranial ossification
delayed speech facial asymetry strabismus ear lobe creases
deleted in azoospermia
deletion 10p
deletion 10pter
deletion 10q
deletion 11p
deletion 11p11 p12
deletion 11p13
deletion 11q partielle
deletion 12p12 p11
deletion 12p13
deletion 13q
deletion 13q14
deletion 13q22
deletion 13q32
deletion 14q partial duplication 14p partial
deletion 14q11
deletion 14q31
deletion 14qter
deletion 15q1
deletion 15q25
deletion 17q23 q24
deletion 18p
deletion 18q
deletion 18q23
deletion 1p
deletion 1p22 p13
deletion 1p31 p22
deletion 1p32
deletion 1p34 p32
deletion 1p36
deletion 1q21 q25
deletion 1q25 q32
deletion 1q32 q42
deletion 1q4
deletion 20p
deletion 21q22
deletion 2p22
deletion 2pter p24
deletion 2q
deletion 2q duplication 1p
deletion 2q24
deletion 3p
deletion 3p14 p11
deletion 3p25
deletion 3q13
deletion 3q21 23
deletion 3q27
deletion 4p
deletion 4p14 p16
deletion 4q
deletion 4q32
deletion 5p
deletion 5q35
deletion 6p23
deletion 6q
deletion 6q1
deletion 6q13 q15
deletion 6q16 q21
deletion 6q2
deletion 7
deletion 7q2
deletion 7q21
deletion 7q3
deletion 8p
deletion 8p23 1
deletion 8q
deletion 8q12 21
deletion 8q21 q22
deletion 9p
deletion xp22 pter
deletion xq28
delleman oorthuys syndrome
delta 1 pyrroline 5 carboxylate dehydrogenase deficiency
Delta-sarcoglycanopathy
dementia hereditary multi infarct type
dementia progressive lipomembranous polycysta
Demodicidosis
dengue
dennis cohen syndrome
dennis fairhurst moore syndrome
dent disease
dental aberrations steroid dehydrogenase deficiency
dentatrorubral pallidoluysian atrophy
dentin dysplasia sclerotic bones
denys drash syndrome
der kaloustian jarudi khoury syndrome
der kaloustian mcintosh silver syndrome
dermatitis herpetiformis
dermatocardioskeletal syndrome boronne type
dermatoleukodystrophy
dermatomyositis
dermatoosteolysis kirghizian type
dermochondrocorneal dystrophy of Francois
dermoodontodysplasia
dermopathy restritive lethal
desbuquois grenier michel syndrome
desbuquois syndrome
desmin related myopathy
desmoid disease
developmental delay hypotonia extremities hypertrophy
developmental dysphasia familial
devriendt legius fryns syndrome
devriendt vandenberghe fryns syndrome
dexamethasone sensitive hypertension
dextrocardia
dextrocardia bronchiectasis sinusitis
dextrocardia microphthalmia cleft palate mental retardation
diabete insipide nephrogenique dominant type
diabetes epiphyseal dysplasia
diabetes hypogonadism deafness mental retardation
diabetes insipidus nephrogenic
diabetes insipidus nephrogenic recessive type
diabetes insipidus nephrogenic type 1
diabetes insipidus nephrogenic type 2
diabetes insipidus nephrogenic type 3
diabetes insipidus nephrogenic x linked
diabetes mellitus and insipidus optic atrophy
diabetes persistent mullerian ducts
diabetic embryopathy
diaphragmatic agenesia
diaphragmatic agenesis radial aplasia omphalocele
diaphragmatic defect limb deficiency skull defect
diaphragmatic hernia abnormal face limb
diaphragmatic hernia congenital
diaphragmatic hernia exomphalos corpus callosum agenesis
diaphragmatic hernia upper limb defects
diaphyseal dysplasi anaemia
diarrhea chronic with villous atrophy
diarrhea polyendocrinopathy infections x linked
diastematomyelia
diastrophic dwarfism
diastrophic dysplasia
dibasicaminoaciduria 2
dibasicaminoaciduria type 1
dicarboxylicaminoaciduria
didmoad syndrome
die smulders droog van dijk syndrome de
die smulders vles fryns syndrome
diencephalic syndrome
diethylstilbestrol antenatal infection
diffuse neonatal haemangiomatosis
diffuse palmoplantar keratoderma bothnian type
digeorge syndrome
digestive duplication
digitorenocerebral syndrome
digitotalar dysmorphism
dihydropteridine reductase deficiency
dihydropyrimidine dehydrogenase deficiency
dincsoy salih patel syndrome
dinno shearer weisskopf syndrome
diomedi bernardi placidi syndrome
dionisi vici sabetta gambarara syndrome
Diphallia
diphallus rachischisis imperforate anus
diphosphoglycerate mutase deficiency of erythrocyte
diphtheria
diplegia congenital facial
diprosopia
discoid lupus
dislocation of the hip dysmorphism
disomy 1q12 q21
disomy 9q21
disorder in the hormonal synthesis with or without goiter
disorganization syndrome
dissecting cellulitis of the scalp
dissecting cellulitis of the scalp
distal arthrogryposis moore weaver type
distal myopathy
distal myopathy Markesbery-Griggs type
distal myopathy Nonaka type
distal myopathy welander type, swedish type
distal myopathy with vocal cord weakness
distal primary familial acidosis
distal primary familial acidosis autosomal dominant
distal primary familial acidosis autosomal recessive
distal spinal muscular atrophy vocal cord paralysis
distichiasis heart congenital anomalies
distomatosis
dk phocomelia syndrome
dobrow syndrome
dominant cleft palate
dominant ichtyosis vulgaris
dominant zonular cataract
donnai barrow syndrome
donohue syndrome
door syndrome
dopa responsive dystonia
Dopamine beta-hydroxylase deficiency
double cortex
double discordia
double fingernail of fifth finger
double outlet left ventricule
double outlet right ventricule
double uterus-hemivagina-renal agenesis
double y
drachtman weinblatt sitarz syndrome
dracunculiasis
drash syndrome
duane anomaly mental retardation
duane syndrome
dubin johnson syndrome
dubowitz syndrome
duhring brocq disease
duker weiss siber syndrome
duodenal atresia
duodenal atresia tetralogy of fallot
duplication 1 mosaicism
duplication 10p
duplication 10pter p13
duplication 10q partial
duplication 11q
duplication 11q23
duplication 12 mosaicism
duplication 12p
duplication 12q
duplication 13
duplication 13p
duplication 13q
duplication 14 mosaicism
duplication 14q partial deletion 14p partial
duplication 14qprox
duplication 14qter
duplication 15 mosaicism
duplication 15q
duplication 16 mosaicism
duplication 16p
duplication 16q
duplication 17 mosaicism
duplication 17p
duplication 17p11 2
duplication 18
duplication 18 mosaicism
duplication 18p
duplication 18q
duplication 19q
duplication 1p21 p32
duplication 1q12 q21
duplication 1q32 qter
duplication 1q42 11 q42 12
duplication 1q42 qter
duplication 2 mosaicism
duplication 20 mosaicism
duplication 20p
duplication 22
duplication 22q11 q13
duplication 2p
duplication 2p13 p21
duplication 2pter p24
duplication 2q
duplication 2q37
duplication 3 mosaicism
duplication 3p
duplication 3p25
duplication 3q
duplication 3q13 2 q25
duplication 4p
duplication 4q
duplication 4q21
duplication 4q25 qter
duplication 5p
duplication 5pter p13 3
duplication 5q
duplication 6p
duplication 6q
duplication 7 mosaicism
duplication 7p
duplication 7p13 p12 2
duplication 7q
duplication 8
duplication 8p
duplication 8q
duplication 9 mosaicism
duplication 9p partial
duplication 9q21
duplication 9q32
duplication of leg mirror foot
duplication of the thumb unilateral biphalangeal
duplication of urethra
duplication xp3
duplication xpter xq13
duplication xq
duplication xq13 1 q21 1
duplication xq25
dupont sellier chochillon syndrome
dwarfism bluish sclerae
dwarfism deafness retinitis pigmentosa
dwarfism familial synovial chondromatosis
dwarfism lethal type advanced bone age
dwarfism mental retardation eye abnormality
dwarfism seckel type
dwarfism short limb absent fibulas very short digits
dwarfism stiff joint ocular abnormalities
dwarfism syndesmodysplasic
dwarfism tall vertebrae
dwarfism thin bones multiple fractures
dyggve melchior clausen disease
dykes markes harper syndrome
Dyschondroplasia
dyschondrosteosis
dyschondrosteosis nephritis
dyschromatosis symmetrica hereditaria
dyschromatosis universalis
dysequilibrium syndrome
Dysferlinopathy
dysfibrinogenemia, familial
dysgerminoma
dysharmonic skeletal maturation muscular fibre disproportion
dyskeratosis congenita of zinsser cole engman
dysmorphism abnormal vocalization mental retardation
dysmorphism cleft palate loose skin
dysmorphism corpus callosum agenesis colobomas
dysmorphism multiple structural anomalies
dysosteosclerosis
dysostosis acrofacial postaxial
dysostosis peripheral
dysostosis stanescu type
dysphasic dementia hereditary
dysplasia epiphysealis hemimelica
dysplasia olfactogenitalis of de morsier
dysplastic cortical hyperostosis
dysplastic nevus
dysproconvertinemia
dysprothrombinemia
dysraphism cleft lip palate limb reduction defects
dyssegmental dysplasia glaucoma
dyssegmental dysplasia silverman handmaker type
dystonia musculorum deformans
dystonia musculorum deformans type 1
dystonia musculorum deformans type 2
dystonia progressive with diurnal variation
dystrophic epidermolysis bullosa inversa
Dystrophinopathy

––––––––––––––-

Това е списък на 6073 редки състояния (болести и синдроми), компилиран от различни информационни източници (Orphanet, NORD etc.). Списъкът не претендира за изчерпателност и би могъл да бъде използван за образователни и демонстрационни цели.

Свалете списъка, като кликнете