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Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(18)

  • BlepharophimosisHP:0000581
  • Bulbous noseHP:0000414
  • CryptorchidismHP:0000028
  • Global developmental delayHP:0001263
  • HypothyroidismHP:0000821
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long noseHP:0003189
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Posteriorly rotated earsHP:0000358
  • Prominent noseHP:0000448
  • Prominent occiputHP:0000269
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Short palpebral fissureHP:0012745
  • Sloping foreheadHP:0000340
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(23)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal cheek morphologyHP:0004426
  • Atrial septal defectHP:0001631
  • Atrioventricular canal defectHP:0006695
  • Bifid uvulaHP:0000193
  • Bilateral single transverse palmar creasesHP:0007598
  • Camptodactyly of fingerHP:0100490
  • Clinodactyly of the 5th fingerHP:0004209
  • Ectopic thyroidHP:0100028
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Submucous cleft hard palateHP:0000176
  • Thyroid agenesisHP:0008191
  • Thyroid dysgenesisHP:0008188
  • Thyroid hypoplasiaHP:0005990
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(2)

  • Abnormal nasolacrimal system morphologyHP:0000614
  • Neoplasm of the tongueHP:0100648