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Atelosteogenesis type II

ORPHA:56304 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(1)

  • Limb undergrowthHP:0009826

Frequent (79-30%)(33)

  • Abnormal facial shapeHP:0001999
  • Bell-shaped thoraxHP:0001591
  • Bilateral talipes equinovarusHP:0001776
  • BrachydactylyHP:0001156
  • Broad metacarpalsHP:0001230
  • Broad phalanxHP:0006009
  • CamptodactylyHP:0012385
  • Cleft palateHP:0000175
  • Dumbbell-shaped femurHP:0006375
  • Equinovarus deformityHP:0008110
  • Genu valgumHP:0002857
  • Hitchhiker thumbHP:0001234
  • Increased femoral anteversionHP:0012427
  • Laryngeal cartilage malformationHP:0008752
  • Laryngeal stenosisHP:0001602
  • Metatarsus adductusHP:0001840
  • Narrow chestHP:0000774
  • Pulmonary hypoplasiaHP:0002089
  • RhizomeliaHP:0008905
  • Rhizomelic arm shorteningHP:0004991
  • Sandal gapHP:0001852
  • Short femurHP:0003097
  • Short lower limbsHP:0006385
  • Short metacarpalHP:0010049
  • Short neckHP:0000470
  • Short phalanx of fingerHP:0009803
  • Short ribsHP:0000773
  • Thoracic hypoplasiaHP:0005257
  • Thoracolumbar kyphoscoliosisHP:0003423
  • Tibial torsionHP:0100694
  • TracheobronchomalaciaHP:0002786
  • Ulnar deviation of the hand or of fingers of the handHP:0001193
  • Upper limb undergrowthHP:0009824

Occasional (29-5%)(18)

  • Bilateral cleft palateHP:0100337
  • Cervical kyphosisHP:0002947
  • Elbow flexion contractureHP:0002987
  • EpicanthusHP:0000286
  • Facial midline hemangiomaHP:0004664
  • HypertelorismHP:0000316
  • Hypoplastic cervical vertebraeHP:0008434
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • Midface retrusionHP:0011800
  • PlagiocephalyHP:0001357
  • PolyhydramniosHP:0001561
  • Protuberant abdomenHP:0001538
  • TelecanthusHP:0000506
  • Thin upper lip vermilionHP:0000219
  • Wide nasal baseHP:0012810

Very rare (<4-1%)(1)

  • Elbow dislocationHP:0003042