← 返回搜尋

Marden-Walker syndrome

ORPHA:2461 · Malformation syndrome · Disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(28)

  • Aplasia/Hypoplasia involving the skeletal musculatureHP:0001460
  • ArachnodactylyHP:0001166
  • Arthrogryposis multiplex congenitaHP:0002804
  • Bifid uvulaHP:0000193
  • BlepharophimosisHP:0000581
  • Cleft palateHP:0000175
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Joint stiffnessHP:0001387
  • Low-set earsHP:0000369
  • Mask-like faciesHP:0000298
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Muscular dystrophyHP:0003560
  • Narrow mouthHP:0000160
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Radioulnar synostosisHP:0002974
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Short palpebral fissureHP:0012745
  • Skeletal muscle atrophyHP:0003202
  • Specific learning disabilityHP:0001328
  • Submucous cleft hard palateHP:0000176

Frequent (79-30%)(7)

  • Attention deficit hyperactivity disorderHP:0007018
  • Camptodactyly of fingerHP:0100490
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650

Occasional (29-5%)(26)

  • Abnormal anatomic location of the heartHP:0004307
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cerebellar vermis morphologyHP:0002334
  • Abnormal penis morphologyHP:0000036
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the upper urinary tractHP:0010935
  • Abnormality of the urinary systemHP:0000079
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Cerebellar hypoplasiaHP:0001321
  • DextrocardiaHP:0001651
  • EpispadiasHP:0000039
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • HypospadiasHP:0000047
  • Metatarsus adductusHP:0001840
  • Multicystic kidney dysplasiaHP:0000003
  • Pyloric stenosisHP:0002021
  • Renal agenesisHP:0000104
  • Renal dysplasiaHP:0000110
  • Renal hypoplasia/aplasiaHP:0008678
  • Situs inversus totalisHP:0001696
  • TalipesHP:0001883
  • Ventricular septal defectHP:0001629