Conditions / Syndrome

ectodermal dysplasia 7

info ยท Syndrome

A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13.

Signs and symptoms

  • Brittle hair
  • Sparse eyebrow
  • Dystrophic fingernails
  • Onycholysis
  • Sparse scalp hair
  • Sparse eyelashes
  • Dystrophic toenail
  • Alopecia
  • Abnormality of the dentition
  • Abnormal sweat gland morphology

Also known as: ECTD7; ectodermal dysplasia 7, hair/nail type