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Shprintzen-Goldberg syndrome

ORPHA:2462 · Malformation syndrome · Disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(14)

  • ArachnodactylyHP:0001166
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • High, narrow palateHP:0002705
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Pes planusHP:0001763
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • RetrognathiaHP:0000278
  • TelecanthusHP:0000506

Frequent (79-30%)(17)

  • Abnormal aortic valve morphologyHP:0001646
  • Camptodactyly of fingerHP:0100490
  • Communicating hydrocephalusHP:0001334
  • CraniosynostosisHP:0001363
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • Hypoplasia of the maxillaHP:0000327
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Mitral regurgitationHP:0001653
  • Mitral valve prolapseHP:0001634
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537

Occasional (29-5%)(22)

  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal vertebral body morphologyHP:0003312
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • ApneaHP:0002104
  • Bowing of the long bonesHP:0006487
  • Chiari malformationHP:0002308
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • Elbow dislocationHP:0003042
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • Genu valgumHP:0002857
  • Hyperextensible skinHP:0000974
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • Missing ribsHP:0000921
  • MyopiaHP:0000545
  • Narrow chestHP:0000774
  • OsteopeniaHP:0000938
  • Protruding earHP:0000411
  • VentriculomegalyHP:0002119