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ABCD syndrome

Orpha number ORPHA918
Synonym(s) Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS
  • C1838099
MeSH
  • C535334
MedDRA -
SNOMED CT -

Summary

ABCD syndrome is the acronym for Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and sensorineural Deafness. Five cases have been described. Albinism can be complete (absence of black lock and retinal pigmentation). Hirschsprung disease is severe, involving the colon and the small intestine and causing death within a few days after birth. ABCD syndrome is a severe allelic variant of Shah-Waardenburg syndrome. Stop mutations in the Endothelin B receptor gene (EDNRB) have been found. Inheritance is autosomal recessive.

Expert reviewer(s)

  • Dr Juliette ALBUISSON

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