Create issue ticket

1,568 Possible Causes for Waardenburg Syndrome

  • Congenital Deafness

    For example, it may be associated with a white forelock and different colored eyes, caused by a genetic disease called Waardenburg syndrome.[] Waardenburg syndromes type I and II Waardenburg syndrome (WS) is a largely autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various[] About 1/30 persons in schools for the deaf have Waardenburg syndrome. There are four WS subtypes.[]

  • High Myopia-Sensorineural Deafness Syndrome

    , congenital, Waardenburg syndrome AD/AR 7 21 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 ELMOD3 Deafness AR 1 2 EPS8 Deafness AR 2 2 EPS8L2[] ABCD syndrome was initially suggested as a new discovered disease, but it is in fact the same condition as Shah-Waardenburg syndrome (Waardenburg syndrome type 4A).[] Waardenburg syndromes type I and II Waardenburg syndrome (WS) is a largely autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various[]

  • Piebaldism

    Disorders of melanocyte development are characterized by heterogeneous distribution of pigmentation, so-called 'white spotting,' typified by piebaldism and Waardenburg syndrome[] syndrome.[] The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity[]

  • Constipation

    BACKGROUND: Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease.[] KEYWORDS: Chronic constipation; Hirschsprung disease; Inner ear malformation; SOX10; Waardenburg syndrome[] MESSAGE: Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.[]

  • Hirschsprung's Disease

    The auditory pigmentary disorder, Waardenburg-Shah syndrome, comprises Waardenburg syndrome and Hirschsprung disease and has also been mapped to the EDNRB locus.[] Ami Hemmi, Ken Okamura, Ryushi Tazawa, Yuko Abe, Masahiro Hayashi, Shuji Izumi, Jun Tohyama, Yutaka Shimomura, Yutaka Hozumi and Tamio Suzuki, Waardenburg syndrome type IIE[] Ken Okamura, Naoki Oiso, Gen Tamiya, Satoshi Makino, Daishi Tsujioka, Yuko Abe, Masakazu Kawaguchi, Yutaka Hozumi, Yoshikazu Shimomura and Tamio Suzuki, Waardenburg syndrome[]

  • Klein-Waardenburg Syndrome

    Klein-Waardenburg syndrome, also known as Waardenburg syndrome type 3, belongs to a group of auditory-pigmentary syndromes.[] This report confirms that the Klein-Waardenburg syndrome is an autosomal dominant syndrome.[] Syndrome" Scientific articles from MEDLINE for "Waardenburg's Syndrome" Clinical Trials for "Waardenburg's Syndrome" Medical Conferences/Events for "Waardenburg's Syndrome[]

  • Tietz Syndrome

    The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary[] MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II.[] Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast[]

  • Deafness, Autosomal Dominant 23

    , 124500 PAX3 Waardenburg syndrome, type 1, 193500 MITF Waardenburg syndrome, type 2A, 193510 SNAI2 Waardenburg syndrome, type 2D, 608890 EDNRB Waardenburg syndrome, type[] Hearing loss with EVA or Mondini dysplasia: SLC26A4 (PDS) Branchio-oto-renal syndrome: EYA1, SIX1 Waardenburg syndrome: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Auditory neuropathy[] 4A, 277580 EDN3 Waardenburg syndrome, type 4B, 613265 SOX10 Waardenburg syndrome, type 4C, 613266 SOX10 Waardenburg syndrome,type 2E,with/without neurologic involvement,611584[]

  • Haddad Syndrome

    Shah-Waardenburg syndrome.[] This type is called Shah- Waardenburg syndrome (SWS).[] , central dysmyelination, Waardenburg syndrome, and Hirschsprung disease C1836727 OMIM 130 61 Note: The variant numbers are the total numbers per gene, not limited to the[]

  • Autosomal Dominant Deafness 56

    A variant of this syndrome combining Hirschprung's disease and pigmentary anomaly syndrome is known as Shah-Waardenburg syndrome.[] A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome) [abstract].[] […] forms of hearing impairment include Stickler syndrome and Waardenburg syndrome.[]

Further symptoms

Similar symptoms