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Smith-Lemli-Opitz syndrome

ORPHA:818 · Malformation syndrome · Disorder

HPO 表現型（共 106 項）

Very frequent (99-80%)(16)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal dental morphologyHP:0006482
  • Abnormal dermatoglyphicsHP:0007477
  • Anteverted naresHP:0000463
  • Elevated circulating 7-dehydrocholesterol concentrationHP:0010569
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Increased nuchal translucencyHP:0010880
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(40)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal lung lobationHP:0002101
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormality of the larynxHP:0001600
  • Ambiguous genitaliaHP:0000062
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Atrial septal defectHP:0001631
  • Atrioventricular canal defectHP:0006695
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Biparietal narrowingHP:0004422
  • Cleft palateHP:0000175
  • Clitoral hypertrophyHP:0008665
  • CryptorchidismHP:0000028
  • Cutaneous photosensitivityHP:0000992
  • Cutis marmorataHP:0000965
  • Excessive daytime somnolenceHP:0001262
  • Facial capillary hemangiomaHP:0000996
  • Gingival overgrowthHP:0000212
  • Hip dislocationHP:0002827
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • Intrauterine growth retardationHP:0001511
  • Long philtrumHP:0000343
  • PolyhydramniosHP:0001561
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162
  • Posteriorly rotated earsHP:0000358
  • Proximal placement of thumbHP:0009623
  • PtosisHP:0000508
  • Pulmonary hypoplasiaHP:0002089
  • Recurrent infectionsHP:0002719
  • Self-injurious behaviorHP:0100716
  • Short neckHP:0000470
  • Sleep disturbanceHP:0002360
  • Tracheal stenosisHP:0002777
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119
  • Wide intermamillary distanceHP:0006610
  • Wide mouthHP:0000154

Occasional (29-5%)(50)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal localization of kidneyHP:0100542
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the gallbladderHP:0005264
  • Advanced eruption of teethHP:0006288
  • Aganglionic megacolonHP:0002251
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • Bifid tongueHP:0010297
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Choanal atresiaHP:0000453
  • Congenital diaphragmatic herniaHP:0000776
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • GastroschisisHP:0001543
  • GlaucomaHP:0000501
  • HoloprosencephalyHP:0001360
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • Hypopigmentation of hairHP:0005599
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • MesomeliaHP:0003027
  • MicroglossiaHP:0000171
  • Multicystic kidney dysplasiaHP:0000003
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Patent ductus arteriosusHP:0001643
  • ProptosisHP:0000520
  • Pyloric stenosisHP:0002021
  • Renal hypoplasia/aplasiaHP:0008678
  • RhizomeliaHP:0008905
  • SclerocorneaHP:0000647
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Split handHP:0001171
  • StrabismusHP:0000486
  • Supernumerary toothHP:0011069
  • Talipes calcaneovalgusHP:0001884
  • Tooth agenesisHP:0009804
  • Ulnar deviation of fingerHP:0009465
  • Upslanted palpebral fissureHP:0000582
  • Ureteropelvic junction obstructionHP:0000074