|Other names: Omodysplasia, Autosomal dominant|
|Omodysplasia 2 is inherited in an autosomal dominant manner.|
Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system.
Signs and symptoms
These can be grouped under those evident in the skull/face, the long bones and the genitourinary system
- Anteverted nostrils
- Bifid nasal tip
- Depressed nasal bridge
- Fontal bossing
- Long philtrum
- Low set ears
- Long bones
- Short first metacarpal
- Short humerus
- Genitourinary hypoplasia
This condition is inherited in an autosomal dominant fashion.
The diagnosis of Omodysplasia 2 is done via the following :
- Clinical features
- Genetic test
There is no currently known treatment for this condition.
This condition was first described by Maroteaux et al in 1989.
- "Entry - #164745 - OMODYSPLASIA 2; OMOD2 - OMIM". omim.org. Archived from the original on 23 January 2022. Retrieved 14 November 2023.
- 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
- Arabzadeh, Aidin; Baghianimoghadam, Behnam; Nabian, Mohammad Hossein; Fallah, Yousef; Ebrahimnasab, Mohammad Mehdi (3 August 2022). "Dominant omodysplasia—A sporadic case—A new case report and review of the literature". Clinical Case Reports. 10 (8): e6187. doi:10.1002/ccr3.6187. ISSN 2050-0904. Archived from the original on 14 November 2023. Retrieved 14 November 2023.
- Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375