DISEASES

Disease-gene associations mined from literature

Human genes for Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome [DOID:1933]

Rubinstein-Taybi Syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a 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. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is inherited in an autosomal dominant pattern and is uncommon, occurring in an estimated 1 in 125,000 births.

Synonyms:  Rubinstein-Taybi syndrome,  DOID:1933,  RubinsteinTaybi syndrome,  Rubinstein-Taybi disease,  Rubinstein-Taybi disorder ...