Cockayne syndrome

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Prevalence (%) of clinical parameters based on data from 8 references describing 348 individuals



100
Cerebellar atrophy
100
Cerebral atrophy
100
Contracture
100
Lactate accumulation
100
Short stature
100
Sun sensitivity
100
Weight loss
100
White matter lesions
94
Enamel hypoplasia
88
Cold extremities
85
Neuropathy
82
Basal ganglia pathology
80
Muscle weakness
78
Decreased recovery of RNA synthesis after DNA damage
76
Leukodystrophy
73
Dental caries
73
Hearing loss
73
Xerophthalmus
66
Kyphosis
63
Facial dysmorphism
55
Retinitis pigmentosa
53
Vomiting
52
Ataxia
50
Osteoporosis
48
Scoliosis
44
Hypertension
44
Tremor
42
Pruritus
40
Cataract
38
Developmental delay
34
Optic atrophy
27
Nystagmus
21
Hyperactive reflexes
18
Seizures
17
Areflexia
12
Hypodontia




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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
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



A comprehensive description of the severity groups in Cockayne syndrome.
Valerie Natale,



American journal of medical genetics. Part A - May 2011



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