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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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.</p><p>Most of the GJA1 gene variants that cause oculodentodigital dysplasia result in the substitution of one protein building block (amino acid) for another in the connexin 43 protein. These altered proteins disrupt the structure or function of the gap junction channels. As a result, communication between cells is impaired. Lack of cell communication early in development likely interferes with normal cell growth and cell specialization. These two processes determine the shape and function of many different parts of the body. These developmental problems cause the signs and symptoms seen in people with oculodentodigital dysplasia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Oculodentodigital dysplasia?"},{"bodyHtml":"<p>People with oculodentodigital dysplasia often have eye abnormalities that can lead to vision loss. These eye problems can include underdeveloped and small eyes (microphthalmia) and clouding of the lenses of the eyes (cataracts). People with oculodentodigital dysplasia may also have a condition called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.</p><p>The tooth abnormalities seen in people with oculodentodigital dysplasia often include missing or small teeth, weak enamel, and early tooth loss.</p><p>The condition can also affect the fingers and toes. Individuals with oculodentodigital dysplasia may have permanently bent fingers (camptodactyly), fingers that are unusually curved (clinodactyly), webbing of the skin (syndactyly) between the fourth and fifth fingers, and syndactyly of the toes,</p><p>Individuals who have oculodentodigital dysplasia may also have abnormalities of the head and face (craniofacial anomalies), which can include a narrow nose, a small head size (microcephaly), and an opening in the roof of the mouth (cleft palate).</p><p>Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis); brittle nails; and a skin condition called palmoplantar keratoderma that causes the skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.</p><p>Approximately 30 percent of people with oculodentodigital dysplasia experience neurological problems such as a lack of bladder or bowel control (incontinence), difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), and impaired speech (dysarthria). Some affected individuals develop abnormalities of the brain’s white matter that can be detected with medical imaging (leukodystrophy). Hearing loss and heart problems have also been reported in people with oculodentodigital dysplasia.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"oculodentodigital-dysplasia","sourceDocuments":[{"name":"Oculodentodigital dysplasia","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:53.662350+00:00","label":"Causes","pageSha256":"03e845cc534a70641883679f470e3f5d7e5b09c9920694285d3856f27e3ac832","sourceUrl":"https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/oculodentodigital-dysplasia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Oculodentodigital dysplasia"},"schemaVersion":1}