Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system.
Clinical features
These can be grouped under those evident in the skull/face, the long bones and the genitourinary system
Skull Anteverted nostrils Bifid nasal tip Depressed nasal bridge Fontal bossing Long philtrum Low set ears
Long bones Short first metacarpal Short humerus
Genitourinary Genitourinary hypoplasia Genetics
This condition is inherited in an autosomal dominant fashion.
Mutations in the Frizzled Class Receptor 2 (FZD2) gene have been associated with this condition.Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A (2018) Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. Am J Med Genet A doi: 10.1002/ajmg.a.38623
Diagnosis Differential diagnosis
Robinow syndrome
Treatment
There is no currently known treatment for this condition. History
This condition was first described by Maroteaux et al in 1989.Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375
References
External links