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SPONASTRIME dysplasia

ORPHA:93357 · Disease · Disorder

HPO 表現型（共 79 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the vertebral columnHP:0000925
  • Depressed nasal bridgeHP:0005280
  • Disproportionate short-limb short statureHP:0008873
  • Midface retrusionHP:0011800
  • PlatyspondylyHP:0000926

Frequent (79-30%)(10)

  • Biconcave vertebral bodiesHP:0004586
  • BrachydactylyHP:0001156
  • Genu valgumHP:0002857
  • Intrauterine growth retardationHP:0001511
  • Limb undergrowthHP:0009826
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal striationsHP:0031367
  • RhizomeliaHP:0008905
  • Short femoral neckHP:0100864
  • Small for gestational ageHP:0001518

Occasional (29-5%)(63)

  • Anteverted naresHP:0000463
  • Aplasia of the nasal boneHP:0010941
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Borderline intellectual disabilityHP:0006889
  • Broad footHP:0001769
  • Broad palmHP:0001169
  • CataractHP:0000518
  • Chiari malformationHP:0002308
  • Congenital aphakiaHP:0007707
  • Coxa varaHP:0002812
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total neutrophil countHP:0001875
  • Delayed epiphyseal ossificationHP:0002663
  • Delayed eruption of permanent teethHP:0000696
  • Dilatation of the cerebral arteryHP:0004944
  • EpicanthusHP:0000286
  • Flared metaphysisHP:0003015
  • Flat capital femoral epiphysisHP:0003370
  • Flattened humeral epiphysesHP:0003895
  • Frontal bossingHP:0002007
  • Generalized joint hypermobilityHP:0002761
  • Global developmental delayHP:0001263
  • Hip dislocationHP:0002827
  • Hip subluxationHP:0030043
  • Hyperconvex vertebral body endplatesHP:0004603
  • Hypoplasia of the dental rootHP:0040221
  • Hypoplasia of the nasal boneHP:0004646
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • Ivory epiphyses of the phalanges of the handHP:0010234
  • Joint hypermobilityHP:0001382
  • Knee painHP:0030839
  • KyphoscoliosisHP:0002751
  • Limited elbow extensionHP:0001377
  • Long faceHP:0000276
  • Lower limb asymmetryHP:0100559
  • Lumbar hyperlordosisHP:0002938
  • Mandibular prognathiaHP:0000303
  • MesomeliaHP:0003027
  • Metaphyseal wideningHP:0003016
  • MicrocoriaHP:0025492
  • MicrodontiaHP:0000691
  • Neck painHP:0030833
  • NystagmusHP:0000639
  • Obtuse angle of mandibleHP:0005446
  • Osteopathia striataHP:0010740
  • Pes planusHP:0001763
  • Precocious pubertyHP:0000826
  • Prominent foreheadHP:0011220
  • Recurrent pneumoniaHP:0006532
  • Relative macrocephalyHP:0004482
  • ScoliosisHP:0002650
  • Shallow acetabular fossaeHP:0003182
  • Short dental rootHP:0006336
  • Short footHP:0001773
  • Short long boneHP:0003026
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Shoulder painHP:0030834
  • Small epiphysesHP:0010585
  • Subglottic stenosisHP:0001607
  • Weak voiceHP:0001621
  • Wide noseHP:0000445