Dermatology · Dermatology / Pigmentary disorders
Waardenburg syndrome
also: Klein–Waardenburg syndrome
Pigmentary abnormalities with sensorineural deafness.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Pigmentary disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, from birth
- Gene(s) involved
- EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
- Alternative names & eponyms
- Klein–Waardenburg syndrome
Etiology & mechanism
Neural crest melanocyte developmental defect.
Gene(s) involved (6)
Symptoms & signs (6)
In plain terms, someone with Waardenburg syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Barakat syndrome
sensorineural deafness
1 shared
Brown–Vialetto–Van Laere syndrome
sensorineural deafness
1 shared
Cartilage–hair hypoplasia syndrome
hirschsprung disease
1 shared
Central alveolar hypoventilation syndrome
hirschsprung disease
1 shared
EAST syndrome
sensorineural deafness
1 shared
KID syndrome
sensorineural deafness
1 shared
LEOPARD syndrome
sensorineural deafness
1 shared
MELAS syndrome
sensorineural deafness
1 shared
Mowat–Wilson syndrome
hirschsprung disease
1 shared
Muckle–Wells syndrome
sensorineural deafness
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