greig cephalopolysyndactyly syndrome
The Greig
cephalopolysyndactyly syndrome. A patient with Greig cephalopolysyndactyly [26]. A. Facial view of the patient. Note the hypertelorism and macrocephaly. B. The hand of this patient shows a broad thumb, complete cutaneous syndactyly of digits 2–5 with fusion of the nails and a postaxial supernumerary digit. C. The foot of this patient shows a partially duplicated hallux with cutaneous syndactyly of several digits.
The Greig cephalopolysyndactyly syndrome (GCPS) is a rare pleiotropic, multiple congenital anomaly syndrome. It is primarily characterized by:
- polydactyly-polysyndactyly:
- preaxial polydactyly (most common ) or
- mixed pre- and postaxial polydactyly
- true ocular hypertelorism
- macrocephaly
- frontal bossing
Epidemiology
Precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1 - 9 per 1,000,000) .
Associations
Pathology
GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.
History and etymology
David Middleton Grieg (1864-1936) Scottish surgeon, first described this syndrome in 1926 .
Siehe auch:
- Polydaktylie
- Gorlin-Goltz-Syndrom
- Hypertelorismus
- Makrozephalie
- frontal bossing
- Carpenter syndrome
- Akrokallosales Syndrom
- Polysyndaktylie
- Hypertelorismus vom Typ Teebi
- Mohr-Syndrom
- familiärer Hypertelorismus Greig
und weiter:
Assoziationen und Differentialdiagnosen zu Greig-Syndrom:
