Omodysplasia 2
# Omodysplasia 2

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.

