Dictionary > Waardenburg syndrome

Waardenburg syndrome

Waardenburg syndrome
(Science: syndrome) rare, autosomal dominant disease with variable penetrance and several known clinical types.
clinical features include depigmentation of the skin and hair with a white forelock, congenital cochlear deafness, heterochromia iridis or hypochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root producing increased width of the root of the nose, dystopia canthorum, lateral dystopia of medial canthi and lacrimal puncta and synophrys.
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.
inheritance: audosomal dominant.


You will also like...

Neurology of Illusions
Neurology of Illusions

Illusions are the perceptions and sensory data obtained from situations in which human error prevents us from seeing the..

Stem
Stems

Stems primarily provide plants structural support. This tutorial includes lectures on the external form of a woody twig ..

Control of body movement
Control of Body Movement

Some of the body movements can be controlled at will, others cannot. The body has a motor program, which is the pattern ..

An artistic depiction of a human embryo
Growth and Development of a Human Baby

Upon fertilization, a zygote forms and develops into an embryo. This tutorial elaborates on the growth and development f..

Pink Lotus plant on a pond
Freshwater Lentic Communities & Animals

This tutorial looks at some of the communities in freshwater lentic habitats. For instance, symbiosis occurs in a commun..

Chromosomes X and Y and Sex Determination
Chromosomes X and Y and Sex Determination

This tutorial looks at sex determination via the sex chromosomes, X and Y. Read it to get more info on X and Y chromosom..