Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The signs and symptoms of the condition vary widely among affected individuals. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

Many different variants (also called mutations) in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein, which is commonly known as connexin 43. This protein is a building block for important channels called gap junctions. These channels are found on the cell surface and allow direct communication between cells. Gap junctions that contain connexin 43 proteins are found in many cells throughout the body.

The exact prevalence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide, although it is likely that some affected individuals never receive a diagnosis.

Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases of this condition result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.

Published Date: March 03, 2025
Published By: National Institutes of Health