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Rothmund-Thomson syndrome
ORPHA:2909 · Disease · Disorder
HPO 表現型（共 56 項）
Very frequent (99-80%)(3)
- Malar rashHP:0025300
- PoikilodermaHP:0001029
- Skin rashHP:0000988
Frequent (79-30%)(13)
- Abnormal blistering of the skinHP:0008066
- Abnormality of the dentitionHP:0000164
- Abnormality of the skeletal systemHP:0000924
- InfertilityHP:0000789
- Palmar hyperkeratosisHP:0010765
- Plantar hyperkeratosisHP:0007556
- Reduced bone mineral densityHP:0004349
- Reticular hyperpigmentationHP:0007588
- Short statureHP:0004322
- Small for gestational ageHP:0001518
- Sparse eyebrowHP:0045075
- Sparse eyelashesHP:0000653
- Sparse hairHP:0008070
Occasional (29-5%)(28)
- Abnormal dental enamel morphologyHP:0000682
- Abnormal nail morphologyHP:0001597
- Abnormal trabecular bone morphologyHP:0100671
- Abnormality of blood and blood-forming tissuesHP:0001871
- Aplasia/Hypoplasia of the patellaHP:0006498
- Aplasia/Hypoplasia of the radiusHP:0006501
- Aplasia/Hypoplasia of the skinHP:0008065
- Broad ulnaHP:0003993
- Carious teethHP:0000670
- Delayed eruption of teethHP:0000684
- DiarrheaHP:0002014
- Facial edemaHP:0000282
- Hypopigmentation of the skinHP:0001010
- Hypoplasia of teethHP:0000685
- Hypoplasia of the ulnaHP:0003022
- Increased susceptibility to fracturesHP:0002659
- Juvenile cataractHP:0001118
- Metaphyseal striationsHP:0031367
- MicrodontiaHP:0000691
- Nail dysplasiaHP:0002164
- Neoplasm of the skinHP:0008069
- OsteopeniaHP:0000938
- Selective tooth agenesisHP:0001592
- Short thumbHP:0009778
- Small nailHP:0001792
- Supernumerary toothHP:0011069
- Telangiectasia of the skinHP:0100585
- VomitingHP:0002013
Very rare (<4-1%)(12)
- Alopecia totalisHP:0007418
- AnemiaHP:0001903
- Aplastic anemiaHP:0001915
- Basal cell carcinomaHP:0002671
- CalcinosisHP:0003761
- Decreased total neutrophil countHP:0001875
- LeukemiaHP:0001909
- MelanomaHP:0002861
- MyelodysplasiaHP:0002863
- Nasogastric tube feeding in infancyHP:0011470
- PorokeratosisHP:0200044
- Squamous cell carcinomaHP:0002860