Omodysplasia 2

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Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system.

Clinical features[edit | edit source]

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[edit | edit source]

This condition is inherited in an autosomal dominant fashion.

Mutations in the Frizzled Class Receptor 2 (FZD2) gene have been associated with this condition.[1]

Diagnosis[edit | edit source]

Differential diagnosis[edit | edit source]

Robinow syndrome

Treatment[edit | edit source]

There is no currently known treatment for this condition.

History[edit | edit source]

This condition was first described by Maroteaux et al in 1989.[2]

References[edit | edit source]

  1. 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
  2. Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375

External links[edit | edit source]

Classification
External resources
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Contributors: Prab R. Tumpati, MD