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Congenital cataracts facial dysmorphism

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    Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, mild facial dysmorphism and hypogonadism. Para-infectious rhabdomyolysis is a serious complication reported in an increasing number of patients. During general anaesthesia, patients with CCFDN require careful monitoring as they have an elevated risk of complications. Diagnosis is clinical and is supported by electrophysiological and brain imaging studies.
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    Congenital cataracts, facial dysmorphism, and neuropathy

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    KEGG DISEASE: Congenital cataracts, facial dysmorphism, and neuropathy

    Congenital cataracts, facial dysmorphism, and neuropathy CCFDN is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth congenital cataracts and other eye abnormalities, such as small or poorly developed eyes microphthalmia and abnormal eye movements nystagmus. Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw. 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.
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    Congenital Cataracts – Facial Dysmorphism – Neuropathy

    NCBI Bookshelf. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade. Secondary scoliosis and foot deformities are common. Sensory neuropathy develops after age ten years.
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    Alternative titles; symbols. Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among Bulgarian Gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism. The predominantly motor neuropathy becomes evident during childhood and progresses to severe disability by the third decade Tournev et al.
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