[MIM 600 501]

Acronym for Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and Deafnesss)

Extremely rare: described in a single family. Autosomal recessive transmission of a mutation of the EDNRB gene (13q22.3).  Closely related to Waardenburg type 4 or Waardenburg-Shah syndrome and BADS syndrome (see these terms).

Association of :

-        albinism with a strand of black hair in the occipitotemporal region

-        Hirschsprung's disease

-        sensorineural hearing loss

anesthetic implications: 

extensive Hirschsprung's disease, albinism

References : 

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Updated: May 2024