hypotrichosis with juvenile macular dystrophy


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hypotrichosis with juvenile macular dystrophy

A rare autosomal recessive disorder (OMIM:601553) characterised by early hair loss followed by degenerative changes of the retinal macula, leading to blindness by the third decade of life.

Molecular pathology
CDH3 causes congenital hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia with ectrodactyly and macular dystrophy.
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