← 返回搜尋

Blomstrand lethal chondrodysplasia

ORPHA:50945 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(28)

  • Abnormal epiphysis morphologyHP:0005930
  • Accelerated skeletal maturationHP:0005616
  • Aplastic clavicleHP:0006660
  • Broad clavicleHP:0000916
  • CataractHP:0000518
  • Depressed nasal bridgeHP:0005280
  • Distal shortening of limbsHP:0006402
  • Flared metaphysisHP:0003015
  • Increased bone mineral densityHP:0011001
  • Lethal skeletal dysplasiaHP:0005716
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • MesomeliaHP:0003027
  • Metaphyseal cuppingHP:0003021
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • Neonatal short-limb short statureHP:0008921
  • PlatyspondylyHP:0000926
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • ProptosisHP:0000520
  • Protuberant abdomenHP:0001538
  • Pulmonary hypoplasiaHP:0002089
  • RhizomeliaHP:0008905
  • Short noseHP:0003196
  • Short ribsHP:0000773
  • Short thoraxHP:0010306
  • TelecanthusHP:0000506

Frequent (79-30%)(8)

  • Anteverted naresHP:0000463
  • Bowing of the long bonesHP:0006487
  • Hydrops fetalisHP:0001789
  • Long philtrumHP:0000343
  • Natal toothHP:0000695
  • Protruding tongueHP:0010808
  • Short metacarpalHP:0010049
  • Synostosis of jointsHP:0100240

Occasional (29-5%)(1)

  • Coarctation of aortaHP:0001680