oculodentodigital

Oculodentodigital dysplasia (ODDD) is a rare, inherited disorder defined by characteristic anomalies of the eyes (oculo-), teeth (dento-), and digits (digital), often with additional craniofacial and ectodermal features. The most common genetic cause is pathogenic variants in the GJA1 gene, which encodes connexin 43, a gap-junction protein important for cell communication. The condition is inherited in an autosomal dominant manner with marked phenotypic variability; most cases arise from new mutations, but familial transmission is well documented.

Clinical features typically include a combination of ocular, dental, and limb findings. Ocular abnormalities may include microphthalmia or microcornea, narrow palpebral fissures, iris hypoplasia, and sometimes refractive errors, glaucoma, or cataracts. Dental defects commonly involve enamel hypoplasia and abnormal tooth shape, such as peg-shaped incisors, with missing or malformed teeth reported in some individuals. Digital anomalies frequently consist of syndactyly (fusion of fingers or toes), brachydactyly, and flexion deformities of joints; facial features may include a characteristic pale or thin nasal bridge, smooth philtrum, and other ectodermal signs in some cases.

Diagnosis is based on clinical assessment and confirmation by genetic testing of GJA1. Management is multidisciplinary, involving ophthalmology, dentistry, orthopedics or hand surgery, and genetic counseling; surveillance for associated complications such as ocular or cardiac conduction issues may be advised. The prognosis is variable and depends on the severity of organ involvement and the specific mutation.

ODDD is a rare condition with ongoing research into its full clinical spectrum and the mechanisms by which GJA1 mutations disrupt development.