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Waardenburg Syndrome Pierpoint

Waardenburg Syndrome Pierpoint Causes

Generally, it is an inherited disorder through an autosomal dominant pattern where only one copy of the altered gene is needed to cause the disorder. However, there are types of this syndrome where it is inherited as an autosomal recessive pattern whereby two copies of the altered gene is needed to cause the disorder.

Waardenburg Syndrome Pierpoint Definition

Waardenburg Syndrome Pierpoint is one of the variation in the name used to refer to the Waardenburg Syndrome or the Klein-Waardenburg syndrome, Van der Hoeve-Halbertsma-Waardenburg syndrome, Mende's syndrome II, Ptosis-Epicanthus syndrome,Van der Hoeve-Waardenburg-Klein syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, or the Vogt's syndrome, is an unusual disorder of the gene where it is characterized by moderate to severe impairment in the sense of hearing, defects or abnormalities which usually due from the neutral crest and anomalies in the pigmentation of the skin. It is first defined in 1951 by a Dutch Opthalmologist Petrus Johannes Waardenburg (Waardenburg PJ (1951) "A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness". Am J Hum Genet 1951; 3: 195-253).

Waardenburg Syndrome Pierpoint Diagnosis

Diagnosis includes examination of family history of the patient and physical examination.

Waardenburg Syndrome Pierpoint Symptoms and Signs

The symptoms usually varies from one affected person to another but normally it includes different color of the eyes or the heterochromia, poliosis or the forelock white hair including the premature hair graying, hearing impairment and abnormal pigmentation of the skin. It some cases it may also involved neurologic manifestations.

Waardenburg Syndrome Pierpoint Treatment

There is no known treatments for Waardenburg Syndrome Pierpoint. Medication and treatment are usually based on the symptoms as they occur.

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