Subject OMIM:130060 ORPHA:1899
Mode of inheritance [HP:0000005]
Other
  • Autosomal dominant inheritance [HP:0000006]
Abnormality of the skeletal system [HP:0000924]
Abnormality of joint mobility [HP:0011729]
  • Joint laxity [HP:0001388]
Abnormality of the vertebral column [HP:0000925]
  • Scoliosis [HP:0002650]
  • Kyphosis [HP:0002808]
Other
  • Premature osteoarthritis [HP:0003088]
  • Malar flattening [HP:0000272]
  • Congenital bilateral hip dislocation [HP:0008780]
  • Joint subluxation [HP:0032153]
  • Osteopenia [HP:0000938]
  • Increased susceptibility to fractures [HP:0002659]
Abnormality of joint mobility [HP:0011729]
  • Joint stiffness [HP:0001387]
  • Joint hyperflexibility [HP:0005692]
Abnormality of the vertebral column [HP:0000925]
  • Scoliosis [HP:0002650]
Other
  • Joint dislocation [HP:0001373]
  • Hip dysplasia [HP:0001385]
  • Coxa valga [HP:0002673]
  • Coxa vara [HP:0002812]
  • Hip dislocation [HP:0002827]
  • Avascular necrosis of the capital femoral epiphysis [HP:0005743]
  • Retrognathia [HP:0000278]
  • Micrognathia [HP:0000347]
Abnormality of prenatal development or birth [HP:0001197]
Other
  • Breech presentation [HP:0001623]
Growth abnormality [HP:0001507]
Abnormality of body height [HP:0000002]
  • Mild short stature [HP:0003502]
Abnormality of body height [HP:0000002]
  • Severe short stature [HP:0003510]
Abnormality of the integument [HP:0001574]
Abnormality of the skin [HP:0000951]
  • Poor wound healing [HP:0001058]
  • Atrophic scars [HP:0001075]
  • Bruising susceptibility [HP:0000978]
  • Soft skin [HP:0000977]
  • Hyperextensible skin [HP:0000974]
Abnormality of the skin [HP:0000951]
  • Thin skin [HP:0000963]
  • Hyperextensible skin [HP:0000974]
  • Abnormality of subcutaneous fat tissue [HP:0001001]