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Prevalence (%) of clinical parameters based on data from 8 references describing 348 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 |
| Short stature | skeletal | 100 % | 1308368 | 2011-10-19 | |
| Sun sensitivity | integumentary | 100 % | 1308368 | 2011-09-30 | |
| Contracture | skeletal | 100 % | 21480477 | 2011-09-30 | |
| Short stature | skeletal | 100 % | 21480477 | 2011-09-30 | |
| Ataxia | nervous | 100 % | 21480477 | 2011-09-30 | |
| Cerebral atrophy | nervous | 100 % | 20522568 | 2011-10-26 | |
| Sun sensitivity | integumentary | 100 % | 21480477 | 2011-09-30 | |
| Cerebellar atrophy | nervous | 100 % | 20522568 | 2011-10-26 | |
| Lactate accumulation | nervous | 100 % | 20522568 | 2011-10-27 | |
| Weight loss | multi | 100 % | 1308368 | 2012-11-05 | |
| White matter lesions | nervous | 100 % | 20522568 | 2019-02-07 | |
| Hearing loss | nervous | 96 % | 21480477 | 2011-09-30 | |
| Enamel hypoplasia | skeletal | 94 % | 23311583 | 2015-09-21 | |
| Cold extremities | circulatory | 88 % | 26204423 | 2023-10-09 | |
| Dental caries | digestive | 86 % | 1308368 | 2011-09-30 | |
| Neuropathy | nervous | 85 % | 1308368 | 2012-07-26 | |
| Basal ganglia pathology | nervous | 82 % | 21480477 | 2011-10-14 | |
| Tremor | nervous | 80 % | 21480477 | 2011-09-30 | |
| Muscle weakness | skeletal | 80 % | 26204423 | 2023-10-09 | |
| Decreased recovery of RNA synthesis after DNA damage | integumentary | 78 % | 27004399 | 2016-08-18 | |
| Leukodystrophy | nervous | 76 % | 21480477 | 2011-10-12 | |
| Xerophthalmus | integumentary | 73 % | 21480477 | 2011-09-30 | |
| Kyphosis | skeletal | 66 % | 21480477 | 2011-09-30 | |
| Facial dysmorphism | skeletal | 63 % | 35248096 | 2023-10-09 | |
| Hearing loss | nervous | 60 % | 1308368 | 2011-09-27 | |
| Dental caries | digestive | 58 % | 21480477 | 2011-09-30 | |
| Retinitis pigmentosa | nervous | 55 % | 1308368 | 2011-09-25 | |
| Vomiting | digestive | 53 % | 21480477 | 2011-09-30 | |
| Cataract | nervous | 53 % | 21480477 | 2011-09-30 | |
| Osteoporosis | skeletal | 50 % | 7330673 | 2022-01-06 | |
| Scoliosis | skeletal | 48 % | 26204423 | 2023-10-09 | |
| Seizures | nervous | 46 % | 21480477 | 2011-09-30 | |
| Nystagmus | nervous | 44 % | 21480477 | 2011-09-30 | |
| Hypertension | circulatory | 44 % | 21480477 | 2011-09-30 | |
| Pruritus | integumentary | 42 % | 21480477 | 2011-09-30 | |
| Developmental delay | nervous | 38 % | 1308368 | 2011-09-30 | |
| Cataract | nervous | 36 % | 1308368 | 2011-09-30 | |
| Ataxia | nervous | 35 % | 1308368 | 2011-09-25 | |
| Optic atrophy | nervous | 34 % | 1308368 | 2011-09-26 | |
| Tremor | nervous | 32 % | 1308368 | 2011-09-27 | |
| Nystagmus | nervous | 21 % | 1308368 | 2011-09-30 | |
| Hyperactive reflexes | nervous | 21 % | 1308368 | 2012-07-26 | |
| Areflexia | nervous | 17 % | 1308368 | 2012-07-26 | |
| Hypodontia | skeletal | 12 % | 23311583 | 2015-09-21 | |
| Seizures | nervous | 8 % | 1308368 | 2011-09-30 |
List of references:
Cockayne syndrome: review of 140 cases.
M A Nance, S A Berry,
American journal of medical genetics - Jan 1992
-
Neuroimaging in Cockayne syndrome.
M Koob, V Laugel, M Durand, H Fothergill, C Dalloz, F Sauvanaud, H Dollfus, I J Namer, J-L Dietemann,
AJNR. American journal of neuroradiology - Oct 2010
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel,
Orphanet journal of rare diseases - Jan 2013
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Brian T Wilson, Zornitza Stark, Ruth E Sutton, Sumita Danda, Alka V Ekbote, Solaf M Elsayed, Louise Gibson, Judith A Goodship, Andrew P Jackson, Wee Teik Keng, Mary D King, Emma McCann, Toshino Motojima, Jennifer E Murray, Taku Omata, Daniela Pilz, Kate Pope, Katsuo Sugita, Susan M White, Ian J Wilson,
Genetics in medicine : official journal of the American College of Medical Genetics - May 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel,
Orphanet journal of rare diseases - Mar 2016
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M'rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef,
Orphanet journal of rare diseases - Mar 2022
The spectrum of x-ray manifestations in Cockayne's syndrome.
A Bensman, C Frauré, H J Kaufmann,
Skeletal radiology - 1981