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.

Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.


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PMID (PMCID)
26114849
(4532278)
 FEMALE Middle Aged
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.
Choudhry N, Rao RC.
Ophthalmic Surg Lasers Imaging Retina. 2015;46(6):670-3.
Waardenburg syndrome is characterized by a group of features including telecanthus, a broad nasal root, synophrys of the eyebrows, piedbaldism, heterochromia irides, and deafness.
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.