Waardenburg syndrome

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

Klein syndrome, Klein Waardenburg syndrome

Broader Terms

genetic disorder, syndrome

Related Terms

autosomal dominant trait

Scope Note

rare, autosomal dominant disease with variable penetrance and several known clinical subtypes; 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); may be closely related to piebaldism; Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

Facts (generated by robot; please edit if you find it inaccurate)

• One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes.
• What is Waardenburg Syndrome? Waardenburg Syndrome is a disorder which is inherited.
• Waardenburg Syndrome Important It is possible that the main title of the report Waardenburg Syndrome is not the name you expected.
• Read Waardenburg syndrome is a clinical label attached to a heterogeneous set of auditory-pigmentary syndromes, the primary cause of which is a patchy lack of melanocytes in the hair, eyes, skin, and stria vascularis.
• edu Genetics of Human Deafness Identify Waardenburg Syndrome type II Loci in Man Waardenburg syndrome is one of the most common autosomal dominant syndromes responsible for about 3% of congenital hearing loss.

Would you like to discuss or post question about Waardenburg syndrome ? Click here !