<unk>  (RTS), is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes inherited as an autosomal dominant pattern and is uncommon. Many times it occurs as a de novo (not inherited) occurrence. It occurs in an estimated 1 in 125,000-300,000 births.
Rubinstein–Taybi syndrome
Dubin–Johnson syndrome
Vanishing bile duct syndrome
Crigler–Najjar syndrome
Wilson–Mikity syndrome
Frank–Ter Haar syndrome
Shwachman–Diamond syndrome
Gaucher's disease