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Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

ORPHA:457395 · Malformation syndrome · Disorder

HPO 表現型（共 73 項）

Very frequent (99-80%)(30)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormality of the earHP:0000598
  • Abnormality of the kneeHP:0002815
  • Autistic behaviorHP:0000729
  • BrachydactylyHP:0001156
  • Carpal bone hypoplasiaHP:0001498
  • Cone-shaped epiphysisHP:0010579
  • CraniosynostosisHP:0001363
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • Gait disturbanceHP:0001288
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • KyphoscoliosisHP:0002751
  • Malar flatteningHP:0000272
  • Motor delayHP:0001270
  • OsteopeniaHP:0000938
  • Overlapping toeHP:0001845
  • PlatyspondylyHP:0000926
  • ProptosisHP:0000520
  • Short femoral neckHP:0100864
  • Short fourth metatarsalHP:0004689
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Spondyloepimetaphyseal dysplasiaHP:0002651
  • Tented upper lip vermilionHP:0010804
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(30)

  • Abnormal sternum morphologyHP:0000766
  • Abnormality of the dentitionHP:0000164
  • Beaking of vertebral bodiesHP:0004568
  • Clinodactyly of the 5th fingerHP:0004209
  • Coxa varaHP:0002812
  • Cubitus valgusHP:0002967
  • Disproportionate short-trunk short statureHP:0003521
  • Distal femoral bowingHP:0005096
  • Fibular metaphyseal irregularityHP:0030293
  • Generalized hypotoniaHP:0001290
  • Genu valgumHP:0002857
  • Hyperextensible hand jointsHP:0005639
  • HyperlordosisHP:0003307
  • Increased size of nasopharyngeal adenoidsHP:0040261
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Narrow pelvis boneHP:0003275
  • Pes planusHP:0001763
  • Prominent calcaneusHP:0012428
  • Proximal femoral epiphysiolysisHP:0006461
  • Rocker bottom footHP:0001838
  • Severe expressive language delayHP:0006863
  • Short long boneHP:0003026
  • Short metacarpalHP:0010049
  • Short palmHP:0004279
  • Slender long boneHP:0003100
  • Small epiphysesHP:0010585
  • Thoracolumbar scoliosisHP:0002944
  • Tibial metaphyseal irregularityHP:0030292

Occasional (29-5%)(13)

  • Flattened femoral headHP:0008812
  • Hypoplasia of the corpus callosumHP:0002079
  • Limited elbow extensionHP:0001377
  • Mitral regurgitationHP:0001653
  • Moderate intellectual disabilityHP:0002342
  • Ossifying fibroma of the jawHP:0030427
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • Pes cavusHP:0001761
  • Small foramen magnumHP:0002677
  • StrabismusHP:0000486
  • Thoracic platyspondylyHP:0004592
  • Toe clinodactylyHP:0001863