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DSP-pEDD-arrhythmogenic cardiomyopathy with woolly hair and tooth agenesis

Previously: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis

pEDD Gene: DSP AD/AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Woolly hair, abnormal dentition, striate keratoderma, LV arrhythmogenic cardiomyopathy.

Additional Cutaneous Features

Woolly hair, striate keratoderma

Additional Extracutaneous Features

Abnormal dentition, LV arrhythmogenic cardiomyopathy

References

Chalabreysse L, Senni F, Bruyere P et al. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations. J Dent Res 2011: 90:58-64.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer