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.

Heterochromia iridis

Heterochromia iridis is a difference in the color of the iris in the two eyes.


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PMID (PMCID)
29630160
 FEMALE
Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.
Rutherford A, Glass Ii DA, Agim NG.
Dermatol Online J. 2018;24(2):.
Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum.
24582978
 FEMALE
Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
Arimoto Y, Namba K, Nakano A, Matsunaga T.
Gene. 2014;540(2):258-62.
We identified a de novo nonsense mutation in SOX10 (p.G39X) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis, profound bilateral sensorineural hearing loss, inner ear malformations, and overall hypopigmentation of the hair without dystopia canthorum.
6791571
 MIXED_SAMPLE
A new method for telecanthus correction in Waardenburg syndrome.
Lessa S, Carreirao S.
Ann Plast Surg. 1981;6(6):482-90.
Waardenburg syndrome is characterized by lateral displacement of the medial canthi and lacrimal puncta, a broad nasal root, poliosis, heterochromia iridis, hyperplasia of the medial portion of the eyebrows, and congenital sensorineural deafness.