Congenital cataracts-facial dysmorphism-neuropathy syndrome

What is Congenital cataracts-facial dysmorphism-neuropathy syndrome?

A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy.

Other condition names

  • CCFDN

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Infancy
  • Neonatal
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