Rothmund-Thomson syndrome |
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Prevalence (%) of clinical parameters based on data from 2 references describing 50 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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:
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
L L Wang, M L Levy, R A Lewis, M M Chintagumpala, D Lev, M Rogers, S E Plon,
American journal of medical genetics - Jul 2001
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