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Seckel syndrome



Seckel syndrome
Classification & 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.

Additional recommended knowledge

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


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Seckel_syndrome". A list of authors is available in Wikipedia.
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