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congenital cataracts-facial dysmorphism-neuropathy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
Uniprot Description An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).
Mondo Term and Equivalent IDs
MONDO:0011402:  congenital cataracts-facial dysmorphism-neuropathy syndrome
MESH:C565822: 
Orphanet:48431: 
SCTID:702433001: 
UMLS:C1858726: