Seckel syndrome
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2008-04-08T18:25:20Z
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robot Adding: [[de:Seckel-Syndrom]]
{{Unreferenced|date=January 2007}}
{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 31625 |
ICD10 = {{ICD10|Q|87|1|q|80}} |
ICD9 = |
ICDO = |
OMIM = 210600 |
MedlinePlus = |
eMedicineSubj = |
eMedicineTopic = |
MeshID = |
}}
The '''Seckel syndrome''' or '''[[microcephalic]] [[primordial dwarfism]]''' is a [[congenital]] [[dwarfism|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 ({{Gene|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==
* {{WhoNamedIt|synd|869}}
[[Category:Congenital disorders]]
[[Category:Growth disorders]]
{{disease-stub}}
{{Phakomatoses and other congenital malformations not elsewhere classified}}
[[de:Seckel-Syndrom]]
[[pl:Zespół Seckela]]