Waardenburg syndrome [9 genes]

Waardenburg syndrome is a rare multiple congenital anomaly. It shows a wide clinical variability, even among members of the same family. Its main features include congenital sensorineural hearing loss, heterochromia iridum, iris hypoplasia, white lock of hair, or premature graying of hair before age 30.

There are four clinical phenotypes associated with the term “Waardenburg syndrome”. Dystopia canthorum (increased distance between the inner corners of the eyelids) is typical of types WS1 and WS3 and is absent in WS2. WS3 is also associated with musculoskeletal abnormalities in upper limbs, such as hypoplasia, contractures, or synostosis.

Other minor signs are leukoderma, synophris, broad nasal bridge, and hypoplastic alae nasi.

• 1/40,000 individuals worldwide (ORPHA:3440)

The Waardenburg syndrome NGS panel allows confirming the molecular diagnosis, particularly in patients with congenital hearing loss, heterochromia, premature hair graying, or other suggestive features. It allows identifying pathogenic variants, discriminating among the different syndrome subtypes, guiding familial genetic counseling, and supporting clinical management, including monitoring for hearing and ocular issues, etc.

Service indicated upon suspicion of the disease.