Ehlers-Danlos syndrome IX

external

• Synonyms

  • Occipital horn syndrome

• Causes

  • ATP7A gene mutation

• Effects

  • Occipital exostoses
  • Pectus excavatum
  • Cutis laxa
  • Coarse hair
  • Mental retardation
  • Inguinal hernia
  • Umbilical hernia
  • Congenital skeletal dysplasia

• Parents

  • Ehlers-Danlos syndrome
  • X-linked recessive disorder

• Description

  • "ATP7A gene located on X chromosome "