Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

ABCD syndrome

Orpha number ORPHA918
Synonym(s) Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
  • C1838099
  • C535334
MedDRA -


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

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.