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Dyssegmental dysplasia, Silverman-Handmaker type

ORPHA:1865 · Disease · Disorder

HPO 表現型（共 41 項）

Frequent (79-30%)(13)

  • Abnormality of limbsHP:0040064
  • AnisospondylyHP:0002879
  • Bowing of the legsHP:0002979
  • Flat faceHP:0012368
  • Limb undergrowthHP:0009826
  • Limitation of joint mobilityHP:0001376
  • MicromeliaHP:0002983
  • Narrow chestHP:0000774
  • Severe short statureHP:0003510
  • Short long boneHP:0003026
  • Short neckHP:0000470
  • Spontaneous abortionHP:0005268
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(28)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the genitourinary systemHP:0000119
  • Broad long bonesHP:0005622
  • Cleft palateHP:0000175
  • Clubbing of fingersHP:0100759
  • CryptorchidismHP:0000028
  • Developmental cataractHP:0000519
  • EncephaloceleHP:0002084
  • Flexion contractureHP:0001371
  • HirsutismHP:0001007
  • HydrocephalusHP:0000238
  • Hydrops fetalisHP:0001789
  • Hypoplastic iliaHP:0000946
  • Hypoplastic ischiaHP:0003175
  • Hypoplastic pubic boneHP:0003173
  • Increased placental thicknessHP:0032548
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • PterygiumHP:0001059
  • Pulmonary hypoplasiaHP:0002089
  • Respiratory insufficiencyHP:0002093
  • Short ribsHP:0000773
  • Single umbilical arteryHP:0001195
  • Wide nasal bridgeHP:0000431