Waardenburg syndrome

MONDO:0018094

A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

Also known as: Waardenburg syndrome, Waardenburg's syndrome, Mende syndrome, Van der Hoeve Halbertsma Waardenburg Gualdi syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with Waardenburg syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7158) ↑ Autosomal dominant disease (699) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163)

Sub-types of Waardenburg syndrome

Waardenburg syndrome type 1 1 trial
Waardenburg syndrome type 2 1 trial
5 sub-types
- Waardenburg syndrome type 2A 1 trial
- Waardenburg syndrome type 2E 1 trial
- Waardenburg syndrome type 2B 0 trials
- Waardenburg syndrome type 2C 0 trials
- Waardenburg syndrome type 2D 0 trials
Waardenburg syndrome type 3 0 trials
Waardenburg syndrome, IIa 2F 0 trials
Waardenburg-Shah syndrome 0 trials
3 sub-types
- Waardenburg syndrome type 4A 0 trials
- Waardenburg syndrome type 4B 0 trials
- Waardenburg syndrome type 4C 0 trials

Including sub-types (1) Tagged with Waardenburg syndrome (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Waardenburg syndrome

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth