ABCD syndrome is a rare genetic disorder that mainly affects skin color, hair color and intestinal function. The syndrome’s name is an acronym for the main symptoms of the condition, which are albinism, black area of hair (lock), cell migration disorder of the neurocytes of the gut (intestinal dysfunction), and deafness (complete hearing loss). Albinism causes a person to have hair and skin that is much lighter than their parents and siblings. It also causes abnormalities in the eyes, including sensitivity to light (photophobia), rapid and involuntary back-and-forth movement of the eyes (nystagmus), and extreme nearsightedness or farsightedness. The intestinal dysfunction is the most serious issue of the condition and causes poor nutrition, poor weight gain, and abnormal bowel movements. ABCD syndrome has features that are similar to another genetic condition, known as Waardenburg syndrome type 4.
ABCD syndrome is caused by changes (mutations) in the EDNRB gene and it is inherited in an autosomal recessive manner, which means a mutation in both copies of the gene a person has is needed to cause the condition. The diagnosis is suspected in a baby who is born with albinism and a black lock of hair. Genetic testing can be used to confirm the diagnosis. There is no cure for this syndrome, but treatment options may include surgery for intestinal dysfunction and eye issues as well as hearing aids for deafness. If your child has been diagnosed with ABCD syndrome, talk to their doctor about all treatment options. Support groups may provide additional information.