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Name of disease:

Waardenburg Syndrome (WS)

ICD-10 diagnosis code:

E7032

Causes:

Waardenburg syndrome can be autosomal dominant in types 1 and 2 while autosomal recessive in types 3 and 4. It is associated with the mutation of EDN3, EDNRB, MITF, PAX3 and SOX10 genes.

Mode of inheritance:

Waardenburg syndrome can be autosomal dominant in types 1 and 2 while autosomal recessive in types 3 and 4. It is associated with the mutation of EDN3, EDNRB, MITF, PAX3 and SOX10 genes.

Prevalence:

1/ 40,000

Diagnosis:

Diagnosis of Waardenburg syndrome can be based on clinical evaluation, physical finds and patient history. If we suspect a patient with Waardenburg syndrome, we might measure the distances between the inner angels of the eyes (inner canthi) and the outer angles of the eyes (outer canthi)

Age of onset:

Infancy

Common signs and symptoms:

Cleft lip Constipation Deafness Extremely pale blue eyes Pale color of skin, hair and eyes Difficulty completely straightening joints Slight decrease in intellectual function Wide-set eyes White patch of hair or early graying of hair

Available treatments (medicinal and non-medicinal):

Currently, there is no curative treatment for Waardenburg syndrome. The existing treatments are mainly directed toward symptoms of the patients. For example, cochlear implant is used for patients with deafness.

Disease management tips:

Children with Waardenburg syndrome may suffer from poor communication due to deafness. Certain methods can be used to assist in the development of speech such as the use of sign language, lip reading and communication devices. Patients with pigment abnormalities of skin may be prone to sunburns and risk of skin cancers. Therefore, it is recommended that they shall avoid direct sunlight or use sunscreen with sunglasses to protect against the sun. Physical therapy should be used for patients with upper limb abnormalities and difficulty in completely straightening joints. In serious cases, specific surgical procedures may be used to correct the abnormality.

References:

https://rarediseases.org/rare-diseases/waardenburg-syndrome/ https://medlineplus.gov/genetics/condition/waardenburg-syndrome/

Other useful websites:

More about the disease:https://medlineplus.gov/ency/article/001428.htm