Accepted
at 1:35 a.m. May, 31, 2025
by
herstein.jacob
Author:
herstein.jacob
Type of change:
Updated content
Rationale for change
Unfortunately, no approved source for the name change because this is pretty LY - Klein Waardenburg is a subtype of Waardenburg in general. PAX3 mutations contribute to multiple disease subtypes (both Type 1 and Type 3)
Also edited card to focus on more HY topics - AMBOSS question directly asks about the cause of the syndrome, answer is impaired development of neural crest cells
Source: Other - https://en.wikipedia.org/wiki/Waardenburg_syndrome
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- Defect in the differentiation of neural crest cells in the skin, hair, irises, and cochlea
- Patients typically present with a white forelock and eyelashes, depigmented skin patches, limb abnormalities, iridic heterochromia, and sensorineural hearing loss
- Autosomal dominant inheritance pattern
Photo credit: Jin et al., CC BY 4.0, via Frontiers in Genetics, modified by cropping
- Patients typically present with a white forelock and eyelashes, depigmented skin patches, limb abnormalities, iridic heterochromia, and sensorineural hearing loss
- Autosomal dominant inheritance pattern
Photo credit: Jin et al., CC BY 4.0, via Frontiers in Genetics, modified by cropping
Lecture Notes
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Missed Questions
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Pathoma
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Boards and Beyond
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First Aid
Sketchy
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Sketchy 2
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OME
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