User:Mr. Ibrahem/Waardenburg syndrome

Waardenburg syndrome (WS) is a group of genetic conditions characterized by some degree of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, or skin. This may include pale blue eyes, different colored eyes, a white forelock, or patches of light skin. Other symptoms may include abnormal facial shape, abnormal vision, premature graying of the hair, and Hirschsprung's disease.

Mutations in at least 6 different genes can result in the condition, including PAX3, MITF, and SOX10. It is most commonly inherited in an autosomal dominant manner, though cases may be autosomal recessive. The underlying mechanism is believed to involve neural crest cells. Diagnosis is based on symptoms. Based on symptoms and genetics it can be divided into 4 main types.

Management generally involves address symptoms. Efforts to address hearing loss may include a cochlear implant, sign language, or lip reading. Sunscreen, protective clothing, and sunglasses may be used to decrease the risk of sunburns. Life expectancy is generally normal.

Waardenburg syndrome affects about 1 in 40,000 people. It is the cause of about 2–5% of congenitally deafness. Types 1 and 2 are the most common, comprising approximately half and a third of cases respectively, while type 4 comprises a fifth and type 3 less than 2% of cases. The condition was first clearly described in 1951 by Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg.