Seckel syndrome

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 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