| medical genetics|
| 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.
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.
Seckel syndrome Wikipedia
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.
Symptoms include:intellectual disability (more than half of the patients have an IQ below 50)
sometimes pancytopenia (low blood counts)
low birth weight
dislocations of pelvis and elbow
unusually large eyes
The syndrome was named after Helmut Paul George Seckel (American physician, 1900–1960). Harper's syndrome is named after Rita G. Harper.