Carvajal syndrome

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Carvajal syndrome

Synonyms: 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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Carvajal syndrome?

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My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

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