← 返回搜尋

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(7)

  • Adducted thumbHP:0001181
  • ArachnodactylyHP:0001166
  • Disproportionate tall statureHP:0001519
  • HydrocephalusHP:0000238
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Tall statureHP:0000098

Frequent (79-30%)(8)

  • Aortic regurgitationHP:0001659
  • Frontal bossingHP:0002007
  • Gait disturbanceHP:0001288
  • HemiplegiaHP:0002301
  • High, narrow palateHP:0002705
  • ScoliosisHP:0002650
  • Shoulder dislocationHP:0003834
  • Umbilical herniaHP:0001537