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Cockayne syndrome


We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd)
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
Hearing loss nervous 96 % 21480477 2011-09-30
Enamel hypoplasia skeletal 94 % 23311583 2015-09-21
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
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
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
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,

To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 12 3/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or DNA repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between DNA replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.

American journal of medical genetics - Jan 1992

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

Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype. The variation is sufficiently wide that CS patients have traditionally been described in three different severity groups. Unfortunately, there is no single source for information about the different severity groups. This problem can complicate not only diagnosis, but accurate prognosis as well. The goal of this study was to describe the phenotypic variation in CS as completely as possible. This article provides extensive descriptions of traits common to each group and their degree of severity in each group. Forty-five people with CS were surveyed and information from the published literature was used to increase the sample sizes for calculations. This study provides new information, including statistical data for each of the three severity groups (mean age at death, average head circumference, and average length or stature). The study includes cerebro-oculo-facial syndrome (COFS) as a severe form of CS, based on results of recently published genetic studies performed by other authors. This study proposes revised names for CS severity groups: severe, moderate, and mild. The groups were formerly called Type II/early onset CS, Type I/classical CS, and Type III/atypical/mild/late-onset CS, respectively. A fourth newly documented group, UV sensitivity only/adult onset, is also described. Average ages of death were calculated as 5.0 years (severe), 16.1 years (moderate), and 30.3 years (mild).

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,

CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were the main imaging features. Calcifications were typically found in the putamen and less often in the cortex and dentate nuclei. Severe progressive atrophy was seen in the supratentorial white matter, the cerebellum, the corpus callosum, and the brain stem. Patients with early-onset disease displayed more severe hypomyelination and prominent calcifications in the sulcal depth of the cerebral cortex, but atrophy was less severe in late-onset patients. On proton MR spectroscopy, lactate was detected and Cho and NAA values were decreased. These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood.

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,

Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.

Orphanet journal of rare diseases - Jan 2013

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,

Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS).

Orphanet journal of rare diseases - Mar 2016