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Waardenburg's Syndrome (Waardenburg Syndrome)

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Also Known As:
Waardenburg Syndrome; Klein Syndrome; Klein's Syndrome; Waardenburg-Klein Syndrome; Klein Waardenburg Syndrome; Kleins Syndrome; Syndrome, Klein's; Syndrome, Klein-Waardenburg; Syndrome, Waardenburg's; Syndrome, Waardenburg-Klein; Waardenburg Klein Syndrome; Waardenburgs Syndrome; Klein-Waardenburg Syndrome
Networked: 131 relevant articles (0 outcomes, 11 trials/studies)

Disease Context: Research Results

Related Diseases

1. Deafness (Deaf Mutism)
2. Hirschsprung Disease (Hirschsprung's Disease)
3. Hearing Loss (Hearing Impairment)
4. Pallister-Hall Syndrome
5. Medulloblastoma

Experts

1. Goossens, Michel: 4 articles (09/2012 - 08/2002)
2. Chen, Hongsheng: 3 articles (12/2015 - 05/2012)
3. Fisher, David E: 3 articles (01/2012 - 11/2003)
4. Underhill, D Alan: 3 articles (09/2010 - 12/2005)
5. Corry, Gareth N: 3 articles (09/2010 - 12/2005)
6. Pavan, William J: 3 articles (07/2008 - 02/2006)
7. Feng, Yong: 2 articles (12/2015 - 02/2015)
8. Li, Jiada: 2 articles (12/2015 - 02/2015)
9. Luo, Hunjin: 2 articles (12/2015 - 02/2015)
10. Feng, Juan: 2 articles (12/2015 - 02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Waardenburg's Syndrome:
1. type 4 Waardenburg syndromeIBA
2. Microphthalmia-Associated Transcription FactorIBA
3. Waardenburg syndrome type 1IBA
4. Proteins (Proteins, Gene)IBA
5. Waardenburg syndrome type 2IBA
6. placental alkaline phosphataseIBA
7. Nuclear Localization Signals (Nuclear Localization Signal)IBA
8. Greig cephalopolysyndactyly syndromeIBA
9. styrene-methylmethacrylate copolymerIBA
10. CatatrichyIBA

Therapies and Procedures

1. Cochlear Implantation
2. Cochlear Implants (Cochlear Implant)
3. Iridectomy
4. Lasers (Laser)
5. Hearing Aids (Hearing Aid)