Rubinstein–Taybi syndrome
| Rubinstein–Taybi syndrome | |
|---|---|
 |
|
| Patient with Rubinstein–Taybi syndrome | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.2 |
| ICD-9-CM | 759.89 |
| OMIM | 180849 |
| DiseasesDB | 29344 |
| MedlinePlus | 001249 |
| eMedicine | derm/711 ped/2026 |
| MeSH | D012415 |
| GeneReviews | |
| Orphanet | 783 |
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 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.
A case was described in 1957 by Michail, Matsoukas and Theodorou. In 1963, Jack Herbert Rubinstein (1925–2006) and Hooshang Taybi (1919–2006) described a larger series of cases.
Typical features of the disorder include:
A 2009 study found that children with RTS were more likely to be overweight and to have a short attention span, motor stereotypies, and poor coordination, and hypothesized that the identified CREBBP gene impaired motor skills learning. Other research has shown a link with long-term memory (LTM) deficit. See also Epigenetics in learning and memory.
Rubinstein–Taybi syndrome is a microdeletion syndrome involving chromosomal segment 16p13.3 and is characterized by mutations in the CREBBP gene. The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB-binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth, leading to the signs and symptoms of Rubinstein–Taybi syndrome.
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