Seckel syndrome
| Seckel syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q87.1 |
| OMIM | 210600 |
| DiseasesDB | 31625 |
| Patient UK | Seckel syndrome |
The 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 a congenital nanosomic disorder.
Inheritance is autosomal recessive.[2]
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[citation needed], receding mandible and intellectual disability.
A mouse model has been developed.[3]
Genetics
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 (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 |
|---|---|---|---|
| SCKL1 | 210600 | ATR | 3q22-q24 |
| SCKL2 | 606744 | ? | 18p11-q11 |
| SCKL3 | 608664 | ? | 14q |
| SCKL4 | 613676 | CENPJ | 13q12 |
Symptoms
Symptoms include:
- intellectual disability (more than half of the patients have an IQ below 50)
- microcephaly
- sometimes pancytopenia (low blood counts)
- cryptorchidism
- low birth weight
- dislocations of pelvis and elbow
- unusually large eyes
- low ears
- small chin
History
The syndrome was named after Helmut Paul George Seckel[4] (American physician, 1900–1960). Harper's syndrome is named after Rita G. Harper.[5][6]
See also
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
- ↑ http://www.whonamedit.com/synd.cfm/869.html
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
