Congenital cataracts - facial dysmorphism - neuropathy (Q94145): Difference between revisions
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Latest revision as of 09:15, 16 August 2026
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_359570451 |
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| English | Congenital cataracts - facial dysmorphism - neuropathy |
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. 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. |
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CID11:ID_359570451
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dki-india-ID_359570451
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Concluído
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15 August 2026
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