| Rubinstein-Taybi syndrome | |
|---|---|
| Classification and external resources | |
| 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 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.
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Features of Rubinstein-Taybi syndrome
A case was described in 1957 by Michail, Matsoukas and Theodorou.[1] In 1963 Jack H. Rubinstein and Hooshang Taybi described a larger series of cases.[2]
Typical features of the disorder include:
- Broad thumbs and broad first toes
- Mental disability
- Small height, bone growth, small head
- Cryptorchidism in males
- Unusual faces involving the eyes, nose, and palate
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.[3]
Genetics
Mutations in the CREBBP gene cause Rubinstein-Taybi syndrome.[4] 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
References
- ^ Michail J, Matsoukas J, Theodorou S (1957). "[Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms.]" (in French). Rev Chir Orthop Reparatrice Appar Mot 43 (2): 142–6. PMID 13466652.
- ^ Rubinstein JH, Taybi H (June 1963). "Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome". Am. J. Dis. Child. 105: 588–608. PMID 13983033.
- ^ Galéra C, Taupiac E, Fraisse S et al. (2009). "Socio-behavioral sharacteristics of children with Rubinstein-Taybi syndrome". J Autism Dev Disord. doi:. PMID 19350377.
- ^ Petrij F, Giles RH, Dauwerse HG, et al. (July 1995). "Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP". Nature 376 (6538): 348–51. doi:. PMID 7630403.
External links
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Wikimedia Commons has media related to: Rubinstein-Taybi syndrome |
- RTS - Rubinstein-Taybi Syndrome - A site devoted to the families and people diagnosed with Rubinstein-Taybi Syndrome.
- RTS - Rubinstein-Taybi Syndrome Argentina - RTS Argentina - www.rubinsteintaybi.com.ar - Grupo de Apoyo - Historias.-
- Dutch RTS-site - RTS the Netherlands
- History of RTS by J.H. Rubinstein.
- GeneReview/UW/NIH entry on Rubinstein-Taybi syndrome
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This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
