Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumors.
Inheritance Pattern
Autosomal dominant
Other Names
Broad thumb-hallux syndrome; RSTS; RTS
Related Genetics Topics
- CREBBP — MedlinePlus Genetics
- EP300 — MedlinePlus Genetics
- 16 — MedlinePlus Genetics
Identifiers
- GTR: C3150941
- GTR: C4551859
- MeSH: D012415
- OMIM: 180849
- OMIM: 613684
- SNOMED CT: 45582004
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
