Seckel syndrome

Seckel syndrome
ICD-10	Q87.1
OMIM	210600
DiseasesDB	31625

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Overview

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

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