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.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


Total: 2

                       


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PMID (PMCID)
12548743
 MALE
Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.
Gupta PC, Peralta D, Parker M, Crowe C, Clark B, Traboulsi EI.
Am J Med Genet A. 2003;117A(1):72-5.
Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.
11174389
 FEMALE Child
A novel KIT mutation results in piebaldism with progressive depigmentation.
Richards KA, Fukai K, Oiso N, Paller AS.
J Am Acad Dermatol. 2001;44(2):288-92.
We hypothesized that an 8-year-old girl and her mother who had unusual piebaldism of a progressive nature would have a novel mutation of the KIT gene, the gene that is altered in patients with piebaldism, or of the MITF (microphthalmia activating transcription factor) gene, which would be expected to cause type II Waardenburg syndrome, but is associated with a phenotype of progressive depigmentation in mice.