| content | ||||||||||||||||||||||||||||||||||||||||
 |
This article does not cite any references or sources. Please help improve this article by adding citations to reliable sources. Unverifiable material may be challenged and removed. (January 2007) |
| Seckel syndrome Classification and external resources |
|
| ICD-10 | Q87.1 |
|---|---|
| OMIM | 210600 |
| DiseasesDB | 31625 |
The Seckel syndrome or microcephalic primordial dwarfism is a congenital nanosomic disorder supposed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding ataxia-telangiectasia and RAD3-related protein (ATR) which maps to chromosome 3q22.1-q24. This gene is central in the cell's DNA damage response and repair mechanism.
Symptoms
Symptoms include:
- severe mental retardation (more than half of the patients have an IQ below 50)
- achondroplasia
- microcephaly
- sometimes pancytopenia
- cryptorchidism
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
External links
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
|
||||||||||||||||||||||||||
