ABCD syndrome E70.32

ABCD is the acronym for a rare autosomal recessive hereditary symptom complex with albinism, black hair curl, disorder of cell migration (cell) of intestinal neurocytes (Hirschsprung's disease) and sensorineural hearing loss (deafness). The syndrome is considered a rare variant of Waardenburg-Shah syndrome (see Waardenburg syndrome type IV). The prognosis depends on the length and operability of the aganglionic intestinal segment.

The incidence of WS in Europe is given as one in 45,000 cases.

The cause is a homozygous mutation in the EDNRB gene. One

The cause is a homozygous mutation in the EDNRB gene. A homozygous mut ation means that there is an identical mutation on both the maternal and paternal genes. The mutation was a homozygous base pair transition from C to T at the amino acid level, which caused a premature stop of gene translation.

The ABCD phenotype clearly overlaps with the features of Waardenburg syndrome type IV (Shah-Waardenburg syndrome), which includes sensorineural deafness, hypopigmentation of skin, hair and irides, and HSCR (Verheij JB et al. 2002).

The diagnosis can be made prenatally by ultrasound, as the phenotype shows pigmentation disorders, facial anomalies and other developmental disorders. After birth, the diagnosis is initially made symptomatically and can be confirmed by genetic testing. If the diagnosis is not made early enough, Hirschsprung's disease can lead to complications.

If Hirschsprung's disease is treated in time, ABCD patients otherwise live healthy lives. If Hirschsprung's disease is not recognized early enough, death often occurs in childhood. In most cases, colostomy and reconnection can lead to problems, but these can be treated with laxatives. Hearing loss, which is usually degenerative, can only be treated by surgery or a hearing aid. If the hearing loss is left untreated, the quality of life is not affected.

1. Verheij JB et al. (2002) ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet 108:223-225.