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Rothmund-Thomson syndrome
Rothmund-Thomson

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Prevalence (%) of clinical parameters based on data from 2 references describing 50 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Poikiloderma integumentary 100 % 11471165 2011-10-19
Telangiectasia integumentary 100 % 11471165 2011-10-13
Sun sensitivity integumentary 100 % 11471165 2011-10-13
Poikiloderma integumentary 100 % 24635570 2015-09-18
Short stature skeletal 89 % 24635570 2015-09-18
Short stature skeletal 66 % 11471165 2011-10-13
Alopecia integumentary 61 % 11471165 2011-10-13
Patellar hypoplasia skeletal 50 % 24635570 2015-09-18
Thumb abnormalities skeletal 44 % 24635570 2015-09-18
Cancer skeletal 32 % 11471165 2011-10-13
Vomiting digestive 22 % 24635570 2015-09-18
Radial hypoplasia skeletal 20 % 11471165 2015-09-18
Craniosynostosis skeletal 11 % 24635570 2015-09-18
Diarrhea digestive 11 % 24635570 2015-09-18
Cataract nervous 6 % 11471165 2011-10-13



List of references:







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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
J Piard, B Aral, P Vabres, M Holder-Espinasse, A Mégarbané, S Gauthier, V Capra, G Pierquin, P Callier, C Baumann, L Pasquier, G Baujat, L Martorell, A Rodriguez, A F Brady, F Boralevi, M A González-Enseñat, M Rio, C Bodemer, N Philip, M-P Cordier, A Goldenberg, B Demeer, M Wright, E Blair, E Puzenat, P Parent, Y Sznajer, C Francannet, N DiDonato, O Boute, V Barlogis, O Moldovan, D Bessis, C Coubes, M Tardieu, V Cormier-Daire, A B Sousa, J Franques, A Toutain, M Tajir, S C Elalaoui, D Geneviève, J Thevenon, J-B Courcet, J-B Rivière, C Collet, N Gigot, L Faivre, C Thauvin-Robinet,



Clinical genetics - Mar 2015