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:
  • congenital cataracts & microcorneae
  • hypomyelination of the peripheral nervous system
  • impaired physical growth
  • delayed early motor & intellectual development
  • facial dysmorphism & hypogonadism
• affected individuals are prone to
  • severe rhabdomyolysis after viral infections
  • serious complications related to general anesthesia (
    • pulmonary edema
    • seizures

More general terms

• congenital cataracts
• familial cataracts
• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/604168