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X small rings syndrome

ORPHA:96201 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(29)

  • Abnormal facial shapeHP:0001999
  • Anteverted naresHP:0000463
  • Aortic root aneurysmHP:0002616
  • Bicuspid aortic valveHP:0001647
  • Coarse facial featuresHP:0000280
  • Cutaneous syndactylyHP:0012725
  • Early-onset non-progressive night blindnessHP:0007642
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • Mitral stenosisHP:0001718
  • Neonatal hypotoniaHP:0001319
  • OsteoporosisHP:0000939
  • Premature ovarian insufficiencyHP:0008209
  • Primary amenorrheaHP:0000786
  • Protruding earHP:0000411
  • Reduced bone mineral densityHP:0004349
  • Severe intellectual disabilityHP:0010864
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(3)

  • Lower limb undergrowthHP:0009816
  • Tapered fingerHP:0001182
  • Upper limb undergrowthHP:0009824

Occasional (29-5%)(8)

  • 2-3 toe syndactylyHP:0004691
  • Bilateral tonic-clonic seizureHP:0002069
  • Clinodactyly of the 5th fingerHP:0004209
  • Fetal pyelectasisHP:0010945
  • Joint hypermobilityHP:0001382
  • OligohydramniosHP:0001562
  • SeizureHP:0001250
  • Tall chinHP:0400000