Seckel syndrome


Seckel syndrome, or microcephalic primordial dwarfism is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth retardation and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability.
A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice suffer high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated ageing. These findings are consistent with the DNA damage theory of aging.

Symptoms and signs

Symptoms include:
It is 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 the 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.
Types include:
TypeOMIMGeneLocus
SCKL1ATR3q22-q24
SCKL2?18p11-q11
SCKL3?14q
SCKL4CENPJ13q12

Diagnosis

Treatment

History

The syndrome was named after German- American physician Helmut Paul George Seckel. The synonym Harper's syndrome was named after Rita G. Harper.