Wikipedia

Omodysplasia 2

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

Omodysplasia 2
Omodysplasia 2 is inherited in an autosomal dominant manner.

Clinical features

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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

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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

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Differential diagnosis

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Robinow syndrome

Treatment

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There is no currently known treatment for this condition.

History

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

References

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  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
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