| Rubinstein-Taybi syndrome | |
|---|---|
| Classification and external resources | |
Patient with Rubinstein-Taybi syndrome |
|
| ICD-10 | Q87.2 |
| ICD-9 | 759.89 |
| OMIM | 180849 |
| DiseasesDB | 29344 |
| eMedicine | derm/711 ped/2026 |
| MeSH | D012415 |
Rubinstein-Taybi Syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome,[1] 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.
Contents |
A case was described in 1957 by Michail, Matsoukas and Theodorou.[2] In 1963 Jack Herbert Rubinstein and Hooshang Taybi described a larger series of cases.[3]
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.[4]
Mutations in the CREBBP gene cause Rubinstein–Taybi syndrome.[5] 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.
Mutations in the EP300 gene are responsible for a small percentage of cases of Rubinstein–Taybi syndrome. These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein–Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development.
1 out of 100.000 to 125.000 children are born with RTS
|
||||||||||||||||||||