Carvajal syndrome
What is 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.
Other condition names
- KWWH type II
- Keratoderma with woolly hair type II
- Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
- Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Inheritance type
Autosomal dominant, Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Childhood
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.