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SCARF syndrome

ORPHA:3134 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Frequent (79-30%)(30)

  • Abnormal vertebral body morphologyHP:0003312
  • Bifid scrotumHP:0000048
  • Coarse facial featuresHP:0000280
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Cutis laxaHP:0000973
  • Diastasis rectiHP:0001540
  • Downslanted palpebral fissuresHP:0000494
  • Enamel hypoplasiaHP:0006297
  • EpicanthusHP:0000286
  • Hepatocellular adenomaHP:0012028
  • Hypocalcification of dental enamelHP:0011084
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • Pectus carinatumHP:0000768
  • Perineal hypospadiasHP:0000051
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Short neckHP:0000470
  • Short sternumHP:0000879
  • Sparse hairHP:0008070
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537
  • Webbed neckHP:0000465
  • Wide intermamillary distanceHP:0006610
  • Wide nasal baseHP:0012810

Occasional (29-5%)(2)

  • Hypoplastic nipplesHP:0002557
  • Moderate intellectual disabilityHP:0002342