Waardenburg Syndrome

Waardenburg Syndrome is a disorder characterized by pigmentation problems and congenital hearing loss. With an occurrence of about 1 in 40,000, WS accounts for about 5% of all children born with congenital deafness which makes Waardenburg Syndrome the most common inherited cause of congenital deafness. Of those with WS, 45-50% have severe to profound unilateral or bilateral hearing loss. There are 4 types. The first two are the most common and the most common to cause deafness. All 4 types are very similar, but can be distinguished by various physical characteristics.
odd pigmentation of the skin, white patches of the hair or pre-maturing graying of the hair, and pale blue eyes or different colored eyes like one blue one brown -- typical for all 4v types
wide set eyes with a deep nasal root is also typical of- type 1
Abnormalities in upper limbs like displacement of the shoulder blade and webbed fingers- type 3
Type 4 has symptoms of both Waardenburg and Hirschsprung disease which is an intestinal disorder
WS is caused by mutations of 6 specific genes: EDN3, EDNRB, MITF, PAX3, SNA12 and SOX10
Type 1 and 3- PAX3
Type 2: SNA12 and MITF
Type 4: SOX10, EDN3 or EDNRB
These genes are important for the development and proper functioning of melanocytes.
Melanocytes: are needed for proper functioning of the inner ear (required to make endolymph the fluid within the chambers of the cochlea), as well as pigmentation.
   
Those with Waardenburg Syndrome with a hearing loss may benefit from hearing aids or cochlear implants and by having an Audiologist, Speech Language Pathologist, and Ear nose and throat doctor on their team just as many typical deaf children may.

www.audrehab.org
www.rarediseases.org/rare-diseases-information
www.nytimes.com/health/guides/waardenburg-syndrome/overview
www.emedicine.medscape.com/article/950277-overview
www.californiaearinstitute.com/ear-disorders-waardenburg-syndrome