Catalog

Oculo-dento-digital dysplasia

No MMS code

Link to WHO Definition

Oculo-dento-digital dysplasia – http://id.who.int/icd/entity/1440334374

Oculodentodigital dysplasia (ODDD) is a developmental anomalies syndrome characterised by craniofacial, neurologic, limb and ocular abnormalities. It is caused by heterozygous mutations in the GJA1 gene (6q22-q23), which encodes the gap junction protein connexin 43 (Cx43).