Preferred Label : Congenital cataracts - facial dysmorphism - neuropathy;
ICD-11 definition : 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.;
Origin ID : 359570451;
Currated CISMeF NLP mapping
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.
