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Start free with EleplanWaardenburg syndrome type 1
ORPHA:894Clinical subtype
Also called WS1 · Waardenburg syndrome type I
What it is
A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
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%
16- Abnormality of the eye
- Abnormality of vision
- Congenital sensorineural hearing impairment
- Hearing impairment
- Heterochromia iridis
- Hypopigmentation of hair
- Hypopigmented skin patches
- Lacrimation abnormality
- Mandibular prognathia
- Short nose
- Telecanthus
- Thick eyebrow
- White eyebrow
- White eyelashes
- White forelock
- White hair
Common30–79%
6Sometimes5–29%
10- Abnormal cardiovascular system morphology
- Aganglionic megacolon
- Cleft palate
- Cleft upper lip
- Meningocele
- Ptosis
- Scoliosis
- Spina bifida
and 2 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.
Gene
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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