Oculodentodigital dysplasia

Oculodentodigital dysplasia is characterized by neurological and craniofacial symptoms, as well as by malformed limbs and eyes.

Several symptoms in the above mentioned categories are related to the clinical picture of dysplasia. Examples include a cleft palate, microcephaly, syndactyly, microcornea, cataract, early tooth loss, dysarthria, and delayed psychomotor development. The symptoms and the extent to which the patient is affected vary greatly in each patient and even within a family of affected people. 

The cause was a variety of mutations in the GJA1 gene (6q21-q23.2). This codes for connexin 43. A unique mode of heredity could not be confirmed so far. Most autosomal dominant heredity is present, but sporadic cases have also been reported.