Omodysplasia 2

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Omodysplasia 2
Other names: Omodysplasia, Autosomal dominant[1]
Autosomal dominant - en.svg
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

  • 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


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]


a) Large forehead, hypertelorism, cleft lip b) limited extension left elbow c) short first metacarpal d)bilateral radial head dislocation and proximal radioulnar joint disatasis in chest X‐ray e)normal hip radiography

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

  • Clinical features
  • Genetic test

Differential diagnosis


There is no currently known treatment for this condition.


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


  1. "Entry - #164745 - OMODYSPLASIA 2; OMOD2 - OMIM". Archived from the original on 23 January 2022. Retrieved 14 November 2023.
  2. 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
  3. 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.
  4. Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375

External links

External resources