Conditions / Genetic

osteogenesis imperfecta type 10

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.

Signs and symptoms

  • Narrow forehead
  • Tibial bowing
  • Rhizomelia
  • Generalized joint hypermobility
  • Inguinal hernia
  • Thoracic hypoplasia
  • Pyloric stenosis
  • Decreased calvarial ossification
  • Short femur
  • Generalized hypotonia

Also known as: OI10; osteogenesis imperfecta type X