← 返回搜尋

Van den Ende-Gupta syndrome

ORPHA:2460 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(5)

  • ArachnodactylyHP:0001166
  • BlepharophimosisHP:0000581
  • CamptodactylyHP:0012385
  • Everted lower lip vermilionHP:0000232
  • Malar flatteningHP:0000272

Frequent (79-30%)(17)

  • 2-3 toe syndactylyHP:0004691
  • Bowing of the long bonesHP:0006487
  • Depressed nasal bridgeHP:0005280
  • Dislocated radial headHP:0003083
  • Downslanted palpebral fissuresHP:0000494
  • Elbow contractureHP:0034391
  • Facial asymmetryHP:0000324
  • Hallux valgusHP:0001822
  • High palateHP:0000218
  • Joint contractureHP:0034392
  • Lateral clavicle hookHP:0000895
  • Long footHP:0001833
  • Narrow noseHP:0000460
  • Protruding earHP:0000411
  • Slender metacarpalsHP:0006236
  • Thin ribsHP:0000883
  • Triangular faceHP:0000325

Occasional (29-5%)(16)

  • Abnormal aryepiglottic fold morphologyHP:0008744
  • Abnormal columella morphologyHP:0009929
  • ClinodactylyHP:0030084
  • CraniosynostosisHP:0001363
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • Deviated nasal septumHP:0004411
  • Glenoid fossa hypoplasiaHP:0006633
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • Knee contractureHP:0034671
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • SclerocorneaHP:0000647
  • Talipes equinovarusHP:0001762
  • Underdeveloped nasal alaeHP:0000430