ectodermal dysplasia with ectrodactyly and macular dystrophy

(redirected from Albrectsen-Svendsen syndrome)

ectodermal dysplasia with ectrodactyly and macular dystrophy

A rare autosomal recessive disorder (OMIM:225280) characterised by early hair loss followed by ectodermal dysplasia (e.g., sparse eyebrows and scalp hair), and selective tooth agenesis with macular dystrophy and ectrodactyly.

Molecular pathology
Defects in CDH3 on chromsome 16q22.1, which encodes a cadherin involved in sorting heterogeneous cell types, cause ectodermal dysplasia with ectrodactyly and macular dystrophy.