GJA1 and is most typically inherited in an autosomal dominant manner. Oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing. Management is based on treating the specific symptoms that each affected person exhibits. Early diagnosis can help ensure that the best treatment is available and that steps can be taken to prevent more symptoms from developing.

People with oculodentodigital dysplasia may also have features that affect other body parts. These features may include having a thin nose, sparse hair growth (hypotrichosis), brittle nails, curved fingers, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some individuals may also experience neurological problems that can cause a lack of bladder or bowel control (incontinence), difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria).

A few people with oculodentodigital dysplasia have a skin condition called palmoplantar keratoderma. This condition causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

GJA1 gene. This gene provides instructions to the body to make a protein that helps to form gap junctions. Gap junctions allow for communication between cells of the body. When there is a mutation in GJA1, the body does not form gap junctions correctly, and the communication between cells does not work well. This means that cells cannot grow as they are supposed to, and in some cases cells are not able to undergo changes to be able to accomplish specific functions. This lack of communication between cells causes the symptoms that are seen in individuals with oculodentodigital dysplasia.

GJA1 gene passes this change on to his or her child. We inherit one copy of every gene from our mother, and the other copy from our father. If one copy from either parent has a change that causes the gene not to work properly, an individual may show symptoms of oculodentodigital dysplasia.

In other cases, a person with oculodentodigital dysplasia is born to two people who are not affected by the condition. This could occur for one of two reasons. First, one of the parents of the affected individual may have the changed gene, but does not show any symptoms of the condition. This is a situation called reduced penetrance, which occurs when a mutated gene does not cause symptoms in every individual who has the gene. Another reason that a person affected by oculodentodigital dysplasia might be the only person in his or her family to be affected by the condition is because it might be occurring de novo in that individual. This means that the mutation occurred for the first time in the affected person, and that neither of the parents have the same change in the gene.

In a few very rare cases, oculodentodigital dysplasia has been inherited in an autosomal recessive manner. This means that an individual needs two mutations in the GJA1 gene to have symptoms of the conditions. People with only one mutation in the GJA1 gene are known as carriers and do not have symptoms of the condition.

GJA1 gene to search for mutations is then used to confirm the diagnosis.

Treatment to correct dental findings may include placing crowns on the teeth. Frequent dental visits to watch for changes are also recommended. Finally, your doctor may also recommend neurological and hearing exams, as these issues are more common in people affected by oculodentodigital dysplasia.