Treatment for the disease itself is nonexistent, but options for most of the individual symptoms do exist. For example, one suffering from hearing loss would be given hearing aids, and those with Hirschsprung’s disorder can be treated with a colostomy. As the technology allowing gene therapy advances, the possibilities for a cure will be more and more viable.
ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).