Specialty medical genetics ICD-9-CM 759.89 DiseasesDB 31625 | ICD-10 Q87.1 OMIM 210600 | |
MeSH C537533, C537534, C563881 | ||
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) is an extremely rare congenital nanosomic disorder.
Contents
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.
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:
Symptoms
Symptoms include:
History
The syndrome was named after Helmut Paul George Seckel (American physician, 1900–1960). Harper's syndrome is named after Rita G. Harper.