Conditions / Musculoskeletal

thanatophoric dysplasia

info · Musculoskeletal · ICD-10: Q77.1

An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

Signs and symptoms

  • Pulmonary hypoplasia
  • Femoral bowing
  • Thoracic hypoplasia
  • Prominent forehead
  • Disproportionate short-limb short stature
  • Macrocephaly
  • Breech presentation
  • Short long bone
  • Polyhydramnios
  • Hypoplastic pelvis