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Carvajal syndrome
A rare genetic ectodermal dysplasia syndrome characterized by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.
ORPHA:65282
Classification level: Disorder
- Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
- Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
- KWWH type II
- Keratoderma with woolly hair type II
- Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Childhood, Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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