Last revised by Jeremy Jones on 19 Sep 2021

Omodysplasia is an extremely rare short-limb skeletal dysplasia characterized by 1:

  • frontal bossing
  • depressed nasal bridge
  • anteverted nares
  • low-set ears
  • long philtrum
  • rhizomelia
  • short Humerus with hypoplastic distal humeri
  • elbow dislocation
  • radio-ulnar diastasis
  • flared metaphyses
  • short 1st metacarpal
  • cryptorchidism

It is further divided into two subtypes based on genetic mutations. Type 2 omodysplasia, also known as autosomal dominant omodysplasia, is caused by a mutation in the FZD-2 gene and presents with shortened upper extremities and first metacarpal bones along with facial dysmorphism 2. Type 1 omodysplasia, also known as autosomal recessive omodysplasia caused by a mutation in the GPC6 gene, present with lower limb involvement and severe rhizomelic short stature in addition to craniofacial and skeletal abnormalities of the upper arm 3.

Differential diagnosis


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