aetiology
Last reviewed 01/2018
The aetiology of ulnar dysplasia is unknown but suggested theories include:
- genetic:
- sporadic gene mutation most frequent
- occasionally autosomal dominant familial predisposition
- syndromic associations, inherited in an autosomal dominant manner:
- orofacial malformations
- Cornelia de Lange's syndrome
- Schinzel Syndrome
- femur-fibula-ulna syndrome
- extrinsic:
- hormonal exposure
- no clear link with thalidomide exposure
One pathogenetic theory is that of an injury to the zone of polarizing activity which dictates the morphogen gradient governing antero-posterior patterning