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Rothmund-Thomson syndrome type 1

ORPHA:221008 · Clinical subtype · Subtype of disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(2)

  • Juvenile cataractHP:0001118
  • PoikilodermaHP:0001029

Frequent (79-30%)(14)

  • Abnormality of the dentitionHP:0000164
  • CryptorchidismHP:0000028
  • Dermal atrophyHP:0004334
  • Developmental cataractHP:0000519
  • Facial erythemaHP:0001041
  • Growth delayHP:0001510
  • Hyperpigmentation of the skinHP:0000953
  • Hypopigmentation of the skinHP:0001010
  • Multiple skeletal anomaliesHP:0005775
  • Nail dysplasiaHP:0002164
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Sparse hairHP:0008070
  • TelangiectasiaHP:0001009

Occasional (29-5%)(29)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal trabecular bone morphologyHP:0100671
  • Abnormality of immune system physiologyHP:0010978
  • Alopecia totalisHP:0007418
  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Attention deficit hyperactivity disorderHP:0007018
  • Bone fractureHP:0020110
  • Carious teethHP:0000670
  • Decreased total neutrophil countHP:0001875
  • Delayed eruption of teethHP:0000684
  • DiarrheaHP:0002014
  • Facial edemaHP:0000282
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • Global developmental delayHP:0001263
  • HypogonadismHP:0000135
  • HypothyroidismHP:0000821
  • Intellectual disabilityHP:0001249
  • Metaphyseal striationsHP:0031367
  • MicrodontiaHP:0000691
  • MyelodysplasiaHP:0002863
  • Nasogastric tube feedingHP:0040288
  • Neoplasm of the skinHP:0008069
  • Plantar hyperkeratosisHP:0007556
  • Premature ovarian insufficiencyHP:0008209
  • Sparse or absent eyelashesHP:0200102
  • Tooth agenesisHP:0009804
  • VomitingHP:0002013

Very rare (<4-1%)(19)

  • Abnormal ulnar metaphysis morphologyHP:0004039
  • Abnormality of the radial headHP:0003995
  • Aplastic anemiaHP:0001915
  • Basal cell carcinomaHP:0002671
  • CalcinosisHP:0003761
  • Delayed skeletal maturationHP:0002750
  • Finger symphalangismHP:0009700
  • Genu varumHP:0002970
  • LeukemiaHP:0001909
  • MelanomaHP:0002861
  • Metaphyseal sclerosisHP:0004979
  • OsteopeniaHP:0000938
  • OsteosarcomaHP:0002669
  • Patellar aplasiaHP:0006443
  • Patellar hypoplasiaHP:0003065
  • PorokeratosisHP:0200044
  • Short metacarpalHP:0010049
  • Short phalanx of fingerHP:0009803
  • Squamous cell carcinomaHP:0002860