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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein that helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins.</p><p>All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene&#x27;s instructions are pieced together to produce the CTDP1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how the nonfunctional protein results in the specific signs and symptoms of CCFDN.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Congenital cataracts, facial dysmorphism, and neuropathy?"},{"bodyHtml":"<p>CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine.</p><p>People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density.</p><p>A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-cataracts-facial-dysmorphism-and-neuropathy","sourceDocuments":[{"name":"Congenital cataracts, facial dysmorphism, and neuropathy","reviewed":"2010-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:33.684994+00:00","label":"Causes","pageSha256":"e1add3729a992c781ddbc042ac5792d3b787f2d69dd302de1f56cc5540036bcc","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy"}],"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":"Congenital cataracts, facial dysmorphism, and neuropathy"},"schemaVersion":1}