Waardenburg syndrome

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

White forelock

A triangular depigmented region of white hairs located in the anterior midline of the scalp.


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PMID (PMCID)
10661905
 MIXED_SAMPLE Child
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.
Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A.
Teratology. 2000;61(3):165-71.
Several family members had premature graying, white forelock, congenital leukoderma with or without telecanthus, somewhat suggestive of a Waardenburg syndrome variant.