Bads syndrome E70.32

Witkop, 1979

Complex malformation syndrome involving skin and hair colour, ophthalmological (nystagmus, photophobia, retinal depigmentation) and otological symptoms (deafness).

Witkop reported 2 siblings with white hair, some black curls and depigmented skin with some brown spots. In addition, the infants were shown to have nystagmus, photophobia, retinal depigmentation and deafness. Witkop called this disorder the Black Lock Albinism Deafness Syndrome (BADS).

O'Doherty and Gorlin (1988) presented a patient who had almost normal iris pigmentation but white hair and white eyebrows and eyelashes with scattered black tufts resembling ermine (ermine type) (the ermine is born with brown fur that turns completely white at 9 months of age, always retaining the black tip of its tail). The patient had a sensorineural hearing loss and a slight mental retardation. Depigmentation was observed in various parts of the body. A familial involvement was not detectable.

O'Doherty and Gorlin (1988) referred to descriptions of oculocutaneous albinism with black curls and congenital sensorineural hearing loss (BADS syndrome) that occurred in the siblings described by Witkop (1979).

Waardenburg Syndrome (see also there)

1. O'Doherty N J et al (1988) The ermine phenotype: pigmentary-hearing loss heterogeneity. Am. J. Med. Genet. 30: 945-952
2. Witkop CJ (1979) Depigmentations of the general and oral tissues and their genetic foundations. Ala. J Med Sci 16: 330-333
3. Zarate YA (2009) Phenotypic and microscopic description of a new case of ermine phenotype. Am. J. Med Genet 149A: 1253-12561