ectodermal dysplasia with ectrodactyly & macular dystrophy; EEM syndrome; Albrectsen-Svendsen syndrome; Ohdo-Hirayama-Terawaki syndrome

Genetics

• autosomal recessive
• associated with defects in CDH3

Clinical manifestations

• features of ectodermal dysplasia
  • sparse eyebrows & scalp hair
  • selective tooth agenesis
• macular dystrophy
• ectrodactyly

More general terms

• ectodermal dysplasia
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/225280