Seckel syndrome | |
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Other names | Harper's syndrome |
Boy with Seckel syndrome (left) | |
Specialty | Medical genetics |
Causes | defects of genes on chromosome 3 and 18. |
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2] It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, [3] receding mandible and intellectual disability.
A mouse model has been developed. [4] This mouse model is characterized by a severe deficiency of ATR protein. [4] These mice have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated aging. [4] These findings are consistent with the DNA damage theory of aging.
The syndrome was named after German–American physician Helmut Paul George Seckel [5] (1900–1960). The synonym Harper's syndrome was named after pediatrician Rita G. Harper. [6] [7]
Symptoms include:
It is believed 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 ( ATR) which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism.
Types include:
Type | OMIM | Gene | Locus |
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SCKL1 | 210600 | ATR | 3q22–q24 |
SCKL2 | 606744 | ? | 18p11–q11 |
SCKL3 | 608664 | ? | 14q |
SCKL4 | 613676 | CENPJ | 13q12 |
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