Omodysplasia 2

Classification	OMIM: 164745; SNOMED CT: 725165009;
External resources	Orphanet: 93328;

Omodysplasia 2
Omodysplasia 2
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

This condition is inherited in an autosomal dominant fashion.

Mutations in the Frizzled Class Receptor 2 (FZD2) gene have been associated with this condition.^[2]

The diagnosis of Omodysplasia 2 is done via the following :^[3]

There is no currently known treatment for this condition.

This condition was first described by Maroteaux et al in 1989.^[4]

↑ "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

Omodysplasia 2
Other names: Omodysplasia, Autosomal dominant^[1]

Omodysplasia 2 is inherited in an autosomal dominant manner.

Classification	OMIM: 164745 SNOMED CT: 725165009
External resources	Orphanet: 93328