Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity

Pediatr Neurol. 2005 Oct;33(4):277-9. doi: 10.1016/j.pediatrneurol.2005.04.011.


Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the ribonucleic acid transcription machinery. This report presents a young Gypsy female affected by this rare disorder. Electromyography and sural nerve histology were in accordance with a hypomyelinating neuropathy. After clinical recognition of congenital cataracts facial dysmorphism neuropathy syndrome some years ago, we recently demonstrated the presence of the homozygous IVS6+389C-->T mutation in the CTDP1 gene in this family.

Publication types

  • Case Reports

MeSH terms

  • Cataract / congenital
  • Cataract / genetics*
  • Cataract / pathology*
  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology*
  • Diagnosis, Differential
  • Female
  • Humans
  • Neural Conduction
  • Phosphoprotein Phosphatases / genetics*
  • Point Mutation
  • Roma / genetics
  • Sural Nerve / pathology
  • Syndrome


  • Phosphoprotein Phosphatases
  • carboxy-terminal domain phosphatase

Associated data

  • OMIM/604168