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ORPHA:3440Disease
What it is
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term ''Waardenburg syndrome'' (WS).
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
9- Abnormal facial shape
- Abnormality of skin pigmentation
- Hearing impairment
- Heterochromia iridisDiagnostic criterion
- Hypopigmentation of hairDiagnostic criterion
- Hypopigmented skin patchesDiagnostic criterion
- Premature graying of hairDiagnostic criterion
- Prominent nasal bridge
- SynophrysDiagnostic criterion
Common30–79%
8- Abnormal eyebrow morphology
- Abnormality of the eye
- Congenital sensorineural hearing impairmentDiagnostic criterion
- Sensorineural hearing impairment
- TelecanthusDiagnostic criterion
- Underdeveloped nasal alaeDiagnostic criterion
- White forelockDiagnostic criterion
- Wide nasal bridgeDiagnostic criterion
Sometimes5–29%
15- Abnormality of the gastrointestinal tract
- Aganglionic megacolon
- Aplasia/Hypoplasia of the colon
- Blue iridesDiagnostic criterion
- Camptodactyly
- Elbow contracture
- Intestinal obstruction
- Myelomeningocele
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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