Rubinstein-Taybi syndrome

A new disease profile is added to our database – Rubinstein-Taybi syndrome (RSTS). It is a rare dysmorphic syndrome characterized by mental retardation, broad thumbs and toes, peculiar face and growth retardation. About 30% of cases have a cardiac anomaly. The prevalence is 1:250,000 live births. The syndrome is usually sporadic. RSTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately one-fourth of patients. Molecular studies in patients with RSTS identified heterozygous point mutations in the CREBBP gene, suggesting that the loss of one functional copy of the CREBBP gene underlies the developmental abnormalities in RSTS. Specialized educational programs are required, with early emphasis on psychomotor development and speech therapy. To obtain more information about the disease absolutely free of chage, click here and send us a request. The profile was written by our consultant in genetics – Prof. Dr. Margarita Stefanova, MD, PhD.