ABCD syndrome

Pathology

• aganglionosis of the large intestine
• total absence of neurocytes & nerve fibers in the small intestine

Genetics

• autosomal recessive
• associated with defects in EDNRB

Clinical manifestations

• albinism
• black lock at temporal occipital region
• bilateral deafness

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/600501