Overview

oculodentodigital dysplasia


Show Summary Details

Quick Reference

A developmental disorder (oculodento-osseous dysplasia) caused by mutation in the gap junction α1 protein (connexin-43). There are craniofacial and limb dysmorphisms, spastic paraplegia, and neurodegeneration. There may also be ocular defects, syndactyly type III, and conductive deafness.

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.