Oculodentodigital Dysplasia Testing (GJA1)

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant condition characterized by a typical facial appearance and variable involvement of the eyes, fingers and dentition. Ocular features include bilateral microphthalmia, microcornea and ocular hypotelorism. Digital malformations typically include fifth finger camptodactyly, syndactyly of the fourth and fifth fingers and missing phalanges of the toes. Teeth are typically small and carious. Neurologic features can include spastic quadriparesis, progressive spastic paraparesis, and abnormal white matter changes in brain MRI. Intrafamilial variability of the major phenotypic characteristics is not uncommon.  Pathogenic variants in GJA1  have been identified in patients with ODDD.