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congenital cataracts facial dysmorphism & neuropathy syndrome
Epidemiology:
- occurs in an endogamous group of Vlax Roma (Gypsies)
Pathology:
- central nervous system involvement, with cerebral & spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes
Genetics:
- autosomal recessive
- associated with defects in CTDP1
Clinical manifestations:
- complex clinical phenotype with seemingly unrelated features involving multiple organs & systems
- developmental abnormalities include:
a) congenital cataracts & microcorneae
b) hypomyelination of the peripheral nervous system
c) impaired physical growth
c) delayed early motor & intellectual development
d) facial dysmorphism & hypogonadism
- affected individuals are prone to
a) severe rhabdomyolysis after viral infections
b) serious complications related to general anesthesia (
- pulmonary edema
- seizures
General
congenital cataracts
familial cataracts
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 604168
References
OMIM :accession 604168