Conditions / Skin

autosomal dominant cutis laxa 1

info · Skin · ICD-10: Q82.8

An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.

Signs and symptoms

  • Redundant skin
  • Peripheral pulmonary artery stenosis
  • Inguinal hernia
  • Bronchiectasis
  • Emphysema
  • Cutis laxa
  • Prematurely aged appearance
  • Aortic regurgitation
  • Mitral regurgitation
  • Progeroid facial appearance

Also known as: ADCL1