Congenital cataracts - facial dysmorphism - neuropathy (Q94145): Difference between revisions
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A síndrome da neuropatia dismorfismo facial catarata congênita (CCFDN) é um transtorno de desenvolvimento complexo de herança autossômica recessiva. As anormalidades de desenvolvimento incluem catarata congênita e microcórnea, hipomielinização primária do sistema nervoso periférico, crescimento físico prejudicado, atraso no desenvolvimento motor e intelectual inicial, dismorfismo facial leve e hipogonadismo. A rabdomiólise parainfecciosa é uma complicação grave. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
