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Facial dysmorphism-shawl scrotum-joint laxity syndrome

ORPHA:1778 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(14)

  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Genu valgumHP:0002857
  • HypertelorismHP:0000316
  • Hypoplasia of the zygomatic boneHP:0010669
  • Low-set earsHP:0000369
  • NevusHP:0003764
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Shawl scrotumHP:0000049
  • Smooth philtrumHP:0000319
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(10)

  • Abnormal speech patternHP:0002167
  • Abnormality of coagulationHP:0001928
  • Abnormality of the voiceHP:0001608
  • Cubitus valgusHP:0002967
  • Joint hypermobilityHP:0001382
  • Large fontanellesHP:0000239
  • Low posterior hairlineHP:0002162
  • Mandibular prognathiaHP:0000303
  • Mild intellectual disabilityHP:0001256
  • Umbilical herniaHP:0001537