Conditions / Genetic

Ehlers-Danlos syndrome arthrochalasia type 2

info ยท Genetic

An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.

Signs and symptoms

  • Joint hypermobility
  • Hip dislocation
  • Hyperextensibility of the finger joints
  • Scoliosis
  • Fragile skin
  • Generalized hypotonia
  • Delayed gross motor development
  • Joint subluxation
  • Kyphosis
  • Hallux valgus