-N-
Narcolepsy
– Gelineau disease
Neuritis, retrobulbar
Neurofibromatosis, type 1
– Von Recklinghausen disease
Niemann-Pick disease
– Sphingomyelinase deficiency
Noonan syndrome
– Male Turner syndrome
– Female Pseudo-Turner syndrome
– Turner phenotype with normal karyotype
-O-
Oculopharyngeal muscular dystrophy
– Barbeau disease
Opsoclonus-myoclonus syndrome
– Opsoclonus-myoclonus-ataxia syndrome
– Dancing eye syndrome
– Kinsbourne syndrome
– Paraneoplastic opsoclonus- myoclonus ataxia
– Dancing eyes-dancing feets syndrome
Orotic aciduria
– Orotidylic decarboxylase deficiency
– Uridine monophosphate synthetase deficiency
Osteogenesis imperfecta
– Lobstein disease
-P-
Papillon-Lefevre syndrome
– Hyperkeratosis palmoplantaris with periodontosis
– Keratosis palmoplantaris with periodontopathia
– Palmoplantar keratoderma with periodontosis
Parry–Romberg syndrome
– Progressive hemifacial atrophy
Partial acquired lipodystrophy
– Barraquer-Simons syndrome
Pelizaeus-Merzbacher disease
– Diffuse familial brain sclerosis
– PMD
– Pelizaeus-Merzbacher brain sclerosis
– Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pierre-Marie syndrome
– Menzel syndrome
– Nonne-Marie syndrome
– Sanger Brown syndrome
Porphyrias
Primary pulmonary hypertension
Prader-Willi syndrome
Pulmonary alveolar microlithiasis
Pulmonary alveolar proteinosis
Pseudomyxoma peritonei
– “Jelly belly”
– Malignant large bowel cystadenocarcinoma
– Malignant large bowel peritoneal carcinomatosis
– Mucinous cystadenoma
– Mucinous cyst adenocarcinoma
-R-
Rieger syndrome
– Mesodermal dysgenesis of iris and retina
Rubinstein-Taybi syndrome (RSTS)
-S-
Sarcoidosis
Spastic paraplegia
– Hereditary spastic paraparesis
– Strumpell-Lorrain syndrome
Spina bifida
Stargardt disease
– Juvenile macular dystrophy
Steatocystoma multiplex
– Jamieson disease
Syringocystadenoma papilliferum
– Fistulous vegetative verrucous hydradenoma
Syringomyelia
– Hydromelia
Systematic lupus erythematosus
– Disseminated lupus erythematosus
-T-
T cell immunodeficiency, congenital alopecia, and nail dystrophy
– Severe combined immunodeficiency
Thalassaemia
– Cooley anaemia
– Mediterranean anemia
-U-
Usher syndrom (USH)
– Retinitis pigmentosa – deafness
-V-
-W-
Weary-Kindler syndrome
– Acrokeratotic poikiloderma with bullous atrophy
– Kindler syndrome
Wegener granulomatosis
Whipple disease
– Intestinal lipodystrophy
Williams syndrome
Wilson disease
– Hepatolenticular degeneration