What causes Waardenburg syndrome type 1?
WS1 is caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36. 1. This syndrome is secondary due to the absence of melanocytes in the skin, hair, eyes and the striavascularis ductus cochlearis and a consequence of abnormal migration of cells derived from the neural crest.
What are the 4 types of Waardenburg syndrome?
There are four main types of Waardenburg syndrome. The most common are type I and type II. Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer. The multiple types of this syndrome result from defects in different genes.
What is Waardenburg syndrome type 2?
Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin.
Is Waardenburg syndrome a birth defect?
People with Waardenburg syndrome may also have an unusual facial shape and other changes in their appearance, such as prematurely gray hair. Waardenburg syndrome is a congenital disorder, which means it is present from birth.
Does Waardenburg syndrome cause mental retardation?
Prognosis. Children with Waardenburg syndrome have a normal life expectancy. Morbidity is related to deafness and to defects of neural crest-derived tissues, including mental retardation, seizures, psychiatric disorders, skeletal anomalies, and eye disorders (including cataracts).
What is Waardenburg syndrome eyes?
Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern.
Is Waardenburg syndrome curable?
There’s no actual cure for Waardenburg syndrome. Most of the symptoms don’t require treatment. If inner ear deafness is present, hearing aids or cochlear implants can be used.
Is Waardenburg syndrome rare?
Waardenburg syndrome (WS) is a rare inherited disorder [1]. WS is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues [1, 2]. The incidence of WS is estimated at 2/100000 worldwide.
How rare is Waardenburg?
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children.
Is Waardenburg syndrome caused by inbreeding?
Waardenburg syndrome is caused by mutations in any of several genes that affect the operation of neural crest cells in embryonic development. Most types of Waardenburg syndrome are caused by autosomal dominant mutations. The few that are autosomal recessive are rare.
Can you have Waardenburg syndrome and not deaf?
Description. 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.