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Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
ORPHA:508498 · Malformation syndrome · Disorder
HPO 表現型（共 78 項）
Very frequent (99-80%)(1)
- Intellectual disabilityHP:0001249
Frequent (79-30%)(14)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal skeletal morphologyHP:0011842
- Abnormality of the handHP:0001155
- ColobomaHP:0000589
- Feeding difficultiesHP:0011968
- Generalized joint hypermobilityHP:0002761
- Hearing impairmentHP:0000365
- HypertrichosisHP:0000998
- Long philtrumHP:0000343
- MicroretrognathiaHP:0000308
- Short neckHP:0000470
- Short statureHP:0004322
- Thin upper lip vermilionHP:0000219
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(63)
- 2-3 toe syndactylyHP:0004691
- Abnormal optic disc morphologyHP:0012795
- Agenesis of corpus callosumHP:0001274
- Almond-shaped palpebral fissureHP:0007874
- AmblyopiaHP:0000646
- Aortic regurgitationHP:0001659
- Aplasia/Hypoplasia of the ribsHP:0006712
- Atrioventricular canal defectHP:0006695
- Autistic behaviorHP:0000729
- Bicuspid aortic valveHP:0001647
- Broad halluxHP:0010055
- Broad phalanxHP:0006009
- Broad thumbHP:0011304
- Cerebellopontine angle arachnoid cystHP:0012487
- Cervical hemivertebraeHP:0025481
- Clinodactyly of the 5th fingerHP:0004209
- Coarctation of aortaHP:0001680
- Duplication of phalanx of handHP:0009997
- EsotropiaHP:0000565
- Exocrine pancreatic insufficiencyHP:0001738
- Facial palsyHP:0010628
- Fused cervical vertebraeHP:0002949
- Hip dislocationHP:0002827
- Horseshoe kidneyHP:0000085
- Hyperextensible skinHP:0000974
- HypermetropiaHP:0000540
- Hypermobility of interphalangeal jointsHP:0005620
- Hypoplasia of the corpus callosumHP:0002079
- HypospadiasHP:0000047
- Iris colobomaHP:0000612
- Mandibular prognathiaHP:0000303
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- MicrophthalmiaHP:0000568
- Motor stereotypyHP:0000733
- MyopiaHP:0000545
- Nevus flammeusHP:0001052
- Optic nerve hypoplasiaHP:0000609
- Overlapping toeHP:0001845
- Pectus excavatumHP:0000767
- Pelvic kidneyHP:0000125
- Perimembranous ventricular septal defectHP:0011682
- Periventricular leukomalaciaHP:0006970
- Pes planusHP:0001763
- Preaxial hand polydactylyHP:0001177
- Renal agenesisHP:0000104
- Renal hypoplasiaHP:0000089
- Retinal colobomaHP:0000480
- Short 5th fingerHP:0009237
- Short palmHP:0004279
- Short palpebral fissureHP:0012745
- Shoulder subluxationHP:0003835
- Sleep disturbanceHP:0002360
- Spina bifidaHP:0002414
- StrabismusHP:0000486
- Tetralogy of FallotHP:0001636
- Thoracic hemivertebraeHP:0008467
- Thoracic kyphosisHP:0002942
- Thoracic scoliosisHP:0002943
- Truncus arteriosusHP:0001660
- Unilateral ptosisHP:0007687
- Ventricular septal defectHP:0001629
- VentriculomegalyHP:0002119