Waardenburg's Syndrome malady

NIH Rare Diseases:³⁹ Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. the four known types of waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.waardenburg syndrome type 1 and type 2 have very similar features, although people with type 1 almost always have eyes that appear widely spaced and people with type 2 do not. in addition, hearing loss occurs more often in people with type 2 than in those with type 1. waardenburg syndrome type 3 (sometimes called klein-waardenburg syndrome) includes abnormalities of the upper limbs in addition to hearing loss and changes in pigmentation. waardenburg syndrome type 4 (also known as waardenburg-shah syndrome) has signs and symptoms of both waardenburg syndrome and hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

MalaCards: Waardenburg's Syndrome, also known as waardenburg syndrome, is related to waardenburg syndrome type i and waardenburg syndrome type 4. An important gene associated with Waardenburg's Syndrome is PAX3 (paired box 3), and among its related pathways are Melanocyte Development and Pigmentation and Signaling events mediated by Stem cell factor receptor (c-Kit). The compounds pd 142893 and bq 788 sodium salt have been mentioned in the context of this disorder. Affiliated tissues include brain, brain and skin, and related mouse phenotypes are reproductive system and embryogenesis.

Genetics Home Reference:²⁰ Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

Wikipedia:⁵⁹ Waardenburg syndrome (also Waardenburg­ more...

OMIM: 613266, 608890, 193500, 148820, 613265 193510, 277580, 611584 more

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Disease Ontology8 DOID:9258 OMIM43 613266, 608890, 193500 148820, 613265, 193510, 277580, 611584, more NCIt36 C85222 MeSH31 D014849 SNOMED-CT52 47434006

UMLS via Orphanet57 C0043008 MESH via Orphanet32 D014849 ICD10 via Orphanet24 E70.3 SNOMED-CT via Orphanet53 47434006 UMLS56 C0043008

Clinical features from OMIM: