Conditions / Syndrome

ectodermal dysplasia 15

info ยท Syndrome

An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1.

Signs and symptoms

  • Sparse body hair
  • Sparse hair
  • Dry skin
  • Photophobia
  • Sparse scalp hair
  • Eczematoid dermatitis
  • Hypohidrosis
  • Sparse eyelashes
  • Blepharitis
  • Slow-growing hair

Also known as: ECTD15; ectodermal dysplasia 15, hypohidrotic/hair type