Misplaced Pages

Omodysplasia 2
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.

Clinical features

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

This condition is inherited in an autosomal dominant fashion.

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

Diagnosis

Differential diagnosis

Robinow syndrome

Treatment

There is no currently known treatment for this condition.

History

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

References

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

• Rare diseases