Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) is a recently reported autosomal dominant phenotype of Carvajal syndrome [DS:H02094] associated with leukonychia and oligodontia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Diseases of the myocardium or cardiac chambers
BC43 Cardiomyopathy
H00893 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B
Title
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
