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.
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