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Freeman-Sheldon syndrome

ORPHA:2053 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(16)

  • Abnormality of the dentitionHP:0000164
  • Camptodactyly of fingerHP:0100490
  • Depressed nasal ridgeHP:0000457
  • Dimple chinHP:0010751
  • Downslanted palpebral fissuresHP:0000494
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • Joint stiffnessHP:0001387
  • Narrow mouthHP:0000160
  • ScoliosisHP:0002650
  • Talipes equinovarusHP:0001762
  • Ulnar deviation of fingerHP:0009465
  • Underdeveloped nasal alaeHP:0000430
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(11)

  • Abnormal speech patternHP:0002167
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Hearing impairmentHP:0000365
  • Hypernasal speechHP:0001611
  • Long philtrumHP:0000343
  • Malignant hyperthermiaHP:0002047
  • Prenatal movement abnormalityHP:0001557
  • PtosisHP:0000508
  • Short statureHP:0004322
  • StrabismusHP:0000486

Occasional (29-5%)(4)

  • Absent palmar creaseHP:0010489
  • HerniaHP:0100790
  • OligohydramniosHP:0001562
  • PolyhydramniosHP:0001561