← 返回搜尋

Autosomal recessive multiple pterygium syndrome

ORPHA:2990 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(11)

  • Abnormal sternum morphologyHP:0000766
  • Antecubital pterygiumHP:0009760
  • Axillary pterygiumHP:0001060
  • Finger syndactylyHP:0006101
  • Limitation of joint mobilityHP:0001376
  • Multiple pterygiaHP:0001040
  • Pectus excavatumHP:0000767
  • Popliteal pterygiumHP:0009756
  • ScoliosisHP:0002650
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Webbed neckHP:0000465

Frequent (79-30%)(28)

  • Abnormal eyelid morphologyHP:0000492
  • Abnormal foot morphologyHP:0001760
  • Abnormal skeletal morphologyHP:0011842
  • Abnormality of movementHP:0100022
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Arthrogryposis multiplex congenitaHP:0002804
  • Camptodactyly of fingerHP:0100490
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypogonadismHP:0000135
  • Intrauterine growth retardationHP:0001511
  • Long faceHP:0000276
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Neonatal respiratory distressHP:0002643
  • Orofacial cleftHP:0000202
  • Pointed chinHP:0000307
  • PtosisHP:0000508
  • Short statureHP:0004322
  • TelecanthusHP:0000506
  • Umbilical herniaHP:0001537
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(26)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal gastrointestinal tract morphologyHP:0012718
  • Abnormality of the tongueHP:0000157
  • Absence of labia majoraHP:0008729
  • Aortic aneurysmHP:0004942
  • Cleft palateHP:0000175
  • Cognitive impairmentHP:0100543
  • Conductive hearing impairmentHP:0000405
  • CryptorchidismHP:0000028
  • DolichocephalyHP:0000268
  • Failure to thriveHP:0001508
  • Gait disturbanceHP:0001288
  • Hearing abnormalityHP:0000364
  • Hypoplasia of penisHP:0008736
  • Inguinal herniaHP:0000023
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • NevusHP:0003764
  • PterygiumHP:0001059
  • Pulmonary hypoplasiaHP:0002089
  • Rib fusionHP:0000902
  • Skeletal muscle atrophyHP:0003202
  • Small scrotumHP:0000046
  • Spina bifida occultaHP:0003298
  • StrabismusHP:0000486