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clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types: Cockayne syndrome Type A (CSA) is marked by normal development until a child is 1 or 2 years old, at which point growth slows and developmental delays are noticed. Symptoms are not apparent until they are 1 year. Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth. The average lifespan for children with type B is up to 7 years of age. These symptoms are seen in CS type 2 children. Cockayne syndrome type C (CSC) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder. People with this type of
Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years. These symptoms are seen in CS type 3.
392:, particularly the DNA in active genes. DNA damage is caused by ultraviolet rays from sunlight, radiation, or free radicals in the body. A normal cell can repair DNA damage before it accumulates. If either the ERCC6 or the ERCC8 gene is altered (as in Cockayne Syndrome), DNA damage encountered during transcription isn't repaired, causing RNA polymerase to stall at that location, interfering with gene expression. As the unrepaired DNA damage accumulates, progressively more active gene expression is impeded, leading to malfunctioning cells or cell death, which likely contributes to the signs of Cockayne Syndrome such as premature aging and neuronal hypomyelination.
201:) and is much more severe than CS Type 1. It involves very little neurological development after birth. Death usually occurs by age seven. This specific type has also been designated as cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome Type II. COFS syndrome is named so due to the effects it has on the brain, eyes, face, and skeletal system, as the disease frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis. COFS syndrome can be further subdivided into several conditions (COFS types 1, 2, 3 (associated with
289:. The resulting accumulation of oxidative damage could impair the normal functions of the DNA and may even result in triggering a program of cell death (apoptosis). The children with this disease do not repair the active genes where oxidative damage occurs. Normally, oxidative damage repair is faster in the active genes (which make up less than five percent of the genome) than in inactive regions of the DNA. The resulting accumulation of oxidative damage could impair the normal functions of the DNA and may even result in triggering a program of cell death (
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Syndrome patients are very sensitive to UV radiation. Optimal nutrition can also help. Genetic counseling for the parents is recommended, as the disorder has a 25% chance of being passed to any future children, and prenatal testing is also a possibility. Another important aspect is the prevention of recurrence of CS in other siblings. Identification of gene defects involved makes it possible to offer genetic counseling and antenatal diagnostic testing to the parents who already have one affected child.
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180:(1880–1956) who first described it in 1936 and re-described in 1946. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These two scientists described the case of two brothers with Cockayne syndrome and asserted it was the same disease described by Cockayne. In their article, the two contributed to the signs of the disease through their discovery of calcifications in the brain. They also compared Cockayne syndrome to what is now known as
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285:. Each lesion—a damaged section of DNA—must be snipped out and the DNA repaired to preserve its normal function. Unrepaired DNA can lose its ability to code for proteins. Mutations also can result. These mutations can activate oncogenes or silence tumor suppressor genes. According to research, oxidative damage to active genes is not preferentially repaired, and in the most severe cases, the repair is slowed throughout the whole
510:, or involuntary eye movement, and pupils that fail to dilate demonstrate a loss of control of voluntary and involuntary muscle movement. A salt and pepper retinal pigmentation is also a typical sign. Diagnosis is determined by a specific test for DNA repair, which measures the recovery of RNA after exposure to UV radiation. Despite being associated with genes involved in
431:, particularly inter-strand cross-links, double-strand breaks and some monoadducts. CSB protein is also normally recruited to DNA damaged sites, and its recruitment is most rapid and robust as follows: interstrand crosslinks > double-strand breaks > monoadducts > oxidative damage. CSB protein forms a complex with another DNA repair protein, SNM1A (
502:), and serious sensitivity to sunlight are common, even in individuals without XP-CS. Often patients with Cockayne Syndrome will severely burn or blister with very little heat exposure. The eyes of patients can be affected in various ways and eye abnormalities are common in CS. Cataracts and cloudiness of the cornea (
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Cockayne syndrome is rare worldwide. No racial predilection is reported for
Cockayne syndrome. No sexual predilection is described for Cockayne syndrome; the male-to-female ratio is equal. Cockayne syndrome I (CS-A) manifests in childhood. Cockayne syndrome II (CS-B) manifests at birth or in infancy,
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Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also has xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed. For instance, freckling and pigment abnormalities characteristic of XP are present. The neurological disorder, spasticity,
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Currently, there are two ongoing projects focused on the development of gene therapy for
Cockayne syndrome. The first project, led by the Viljem Julijan Association for Children with Rare Diseases, aims to develop gene therapy specifically for Cockayne syndrome type B. The second project, led by the
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There is no permanent cure for this syndrome, although patients can be symptomatically treated. Treatment usually involves physical therapy and minor surgeries to the affected organs, such as cataract removal. Also wearing high-factor sunscreen and protective clothing is recommended because
Cockayne
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for those with
Cockayne syndrome is poor, as death typically occurs by the age of 12. The prognosis for Cockayne syndrome varies by disease type. There are three types of Cockayne syndrome according to the severity and onset of the symptoms. However, the differences between the types are not always
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mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in
Cockayne syndrome is known, but the
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CS Type I, the "classic" form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Vision and hearing gradually decline. The central and peripheral nervous systems progressively degenerate until death in the first or second decade of life as a
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The recent research on Jan 2018 mentions different CS features that are seen globally with similarities and differences: CS has an incidence of 1 in 250,000 live births, and a prevalence of approximately 1 per 2.5 million, which is remarkably consistent across various regions globally:
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Mutations in the ERCC8 (also known as CSA) gene or the ERCC6 (also known as CSB) gene are the cause of
Cockayne syndrome type A and type B. Mutations in the ERCC6 gene mutation makes up ~70% of cases. The proteins made by these genes are involved in repairing damaged DNA via the
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and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called
498:), due to a loss of subcutaneous fat. Their small chin, large ears, and pointy, thin nose often give an aged appearance. The skin of those with Cockayne syndrome is also frequently affected: hyperpigmentation, varicose or spider veins (
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Laboratory studies are mainly useful to eliminate other disorders. For example, skeletal radiography, endocrinologic tests, and chromosomal breakage studies can help in excluding disorders included in the differential diagnosis.
205:) and 4). Typically patients with this early-onset form of the disorder show more severe brain damage, including reduced myelination of white matter, and more widespread calcifications, including in the cortex and basal ganglia.
439:, that localizes to inter-strand cross-links in a transcription dependent manner. The accumulation of CSB protein at sites of DNA double-strand breaks occurs in a transcription dependent manner and facilitates
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Bender M, Potocki L, Metry D. What syndrome is this? Cockayne syndrome. Pediatric
Dermatology . November 2003;20(6):538-540. Available from: MEDLINE with Full Text, Ipswich, MA. Accessed April 30, 2015.
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Imaging studies reveal a widespread absence of the myelin sheaths of the neurons in the white matter of the brain and general atrophy of the cortex. Calcifications have also been found in the
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Laugel V. Cockayne
Syndrome. 2000 Dec 28 . In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® . Seattle (WA): University of Washington, Seattle; 1993-2015. Available from:
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Title: Cockayne
Syndrome Authors: Dr Nita R Sutay, Dr Md Ashfaque Tinmaswala, Dr Manjiri Karlekar, Dr Swati Jhahttp://jmscr.igmpublication.org/v3-i7/35%20jmscr.pdf
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Kubota, Masaya; Ohta, Sayaka; Ando, Aki; Koyama, Akiko; Terashima, Hiroshi; Kashii, Hirofumi; Hoshino, Hideki; Sugita, Katsuo; Hayashi, Masaharu (June 2015).
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and underdevelopment of sexual organs characteristic of CS are seen. However, hypomyelination and the facial features of typical CS patients are not present.
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Prenatal evaluation is possible. Amniotic fluid cell culturing is used to demonstrate that fetal cells are deficient in RNA synthesis after UV irradiation.
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Vessoni, Alexandre Teixeira; Guerra, Camila Chaves Coelho; Kajitani, Gustavo Satoru; Nascimento, Livia Luz Souza; Garcia, Camila CarriĂŁo Machado (2020).
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found in patients with Cockayne syndrome could also result in the lack of muscle control, particularly involuntary, and poor posture typically seen.
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CS Type III, characterized by late-onset, is typically milder than Types I and II. Often patients with Type III will live into adulthood.
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Neill CA, Dingwall MM. A Syndrome Resembling Progeria: A Review of Two Cases. Archives of Disease in Childhood. 1950;25(123):213-223.
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that regulates movements and aids in some forms of learning, along with the cortex. Additionally, atrophy of the central area of the
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may be grossly deformed ("cactus flowers"), ferruginated dendrites. Dendrites have fewer higher order branches. Purkinje "
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2248:"Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis: Cockayne syndrome in Japan"
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2053:"DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination"
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420:. This deficiency reflects the loss of ability to perform the DNA repair process known as transcription coupled
241:. In normal cells, our body repairs the damaged sections. In the case of this disease, due to subtle defects in
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Riaan Research Initiative, is dedicated to the development of gene therapy for Cockayne syndrome type A.
506:) are common. The loss of and damage to the nerves of the optic nerve, causing optic atrophy, can occur.
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2004:"Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation"
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of the cell cycle, DNA damage can trigger a CSB-dependent recombinational repair process that uses an
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involving oxygen can generate several highly reactive free radicals. These free radicals can cause
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859:. Relative sparing of the cerebral cortex, slight thinning of cortical ribbon may be seen. Normal
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2184:"Cockayne syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Bertola; Cao, H; Albano, Lm; Oliveira, Dp; Kok, F; Marques-Dias, Mj; Kim, Ca; Hegele, Ra (2006).
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Brain CT scanning in Cockayne syndrome patients may reveal calcifications and cortical atrophy.
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needed by the body does not operate at normal capacity. Over time, went this theory, results in
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Kyllermen, Marten. Cockayne Syndrome. Swedish Information Centre for Rare Diseases. 2012: 4.0.
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Karikkineth, A. C.; Scheibye-Knudsen, M.; Fivenson, E.; Croteau, D. L.; Bohr, V. A. (2016).
1739:"Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease"
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The premature aging features of CS are likely due, at least in part, to the deficiencies in
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Iyama T, Lee SY, Berquist BR, Gileadi O, Bohr VA, Seidman MM, McHugh PJ, Wilson DM (2015).
1906:"Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome"
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486:), their eyes appear sunken, and they have an "aged" look. They often have long limbs with
184:(HGPS), then called progeria, due to the advanced aging that characterizes both disorders.
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1796:"Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells"
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In Cockayne syndrome patients, UV-irradiated cells show decreased DNA and RNA synthesis.
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result of serious neurological degradation. Cortical atrophy is less severe in CS Type I.
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van Hoffen A, Natarajan AT, Mayne LV, van Zeeland AA, Mullenders LH, Venema J (1993).
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failure and death. Every minute, the body pumps 10 to 20 liters of oxygen through the
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widespread effects and its relationship with DNA repair is yet to be well understood.
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Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):18-19.
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Wei L, Nakajima S, Böhm S, Bernstein KA, Shen Z, Tsang M, Levine AS, Lan L (2015).
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induced by the action of ultraviolet (UV) light on the template strand of actively
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Karikkineth A, Scheibye-Knudsen M, Fivenson E, Croteau D, Bohr B (January 2017).
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show changes in advanced atherosclerosis and arteriolosclerosis. Unilateral or
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663:. Wrinkled and aged appearing skin. Thin dry hair, prematurely gray hair. Poor
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Nance M, Berry S (1 January 1992). "Cockayne syndrome: review of 140 cases".
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1955:"CSB interacts with SNM1A and promotes DNA interstrand crosslink processing"
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Cerebrooculofacioskeletal Syndrome 2. Online Mendelian Inheritance in Man.
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814:, especially in areas of Metachromatic leukodystrophy, calcification in
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Wizened faceies. Sunken eyes, large ears, thin pointy nose. Small chin.
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Within the damaged cell, the CSA protein normally localizes to sites of
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disorder characterized by growth failure, impaired development of the
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http://www.socialstyrelsen.se/rarediseases/cockaynesyndrome#anchor_17
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Published April 28, 2015. Reviewed May 2010. Accessed April 30, 2015.
1406:"Cockayne syndrome type A: novel mutations in eight typical patients"
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and outer nuclear cell layers. Both the outer and inner segments of
141:, which are conditions characterized by degradation of neurological
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1498:"Cockayne syndrome: the expanding clinical and mutational spectrum"
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2199:"Cockayne syndrome: Clinical features, model systems and pathways"
1854:"Cockayne syndrome: Clinical features, model systems and pathways"
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Hoeijmakers JH (October 2009). "DNA damage, aging, and cancer".
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deficient cells are unable to preferentially repair cyclobutane
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People with this syndrome have smaller than normal head sizes (
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occur in the DNA every day. Many of these lesions result from
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490:(inability to relax the muscle at a joint), a hunched back (
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Batenburg NL, Thompson EL, Hendrickson EA, Zhu XD (2015).
1000:. Loss of hair cells in pars superior. Loss of neurons in
27:"Cocaine syndrome" redirects here. For the substance, see
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518:, CS is not associated with an increased risk of cancer.
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https://emedicine.medscape.com/article/1115866-workup#c5
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to cellular components including the DNA. In an average
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produces several highly reactive forms of oxygen called
2311:
This article incorporates some public domain text from
2140:"Cockayne syndrome type b | Viljem Julijan Association"
1952:
1386:— thought to be a form (or subset) of Cockayne syndrome
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James, William; Berger, Timothy; Elston, Dirk (2005).
867:. Lamination, neuronal size, and configuration of the
1026:. Usually bilateral, most develop by 4 years of age.
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In contrast to cells with normal repair capability,
145:. There are two primary types of Cockayne syndrome:
1449:
Andrews' Diseases of the Skin: Clinical Dermatology
1656:http://ghr.nlm.nih.gov/condition/cockayne-syndrome
851:. May be seen as a high-intensity white matter on
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966:(44%) Most commonly bilateral, rarely unilateral
3449:DNA replication and repair-deficiency disorders
2164:"Riaan Research Initiative — Cockayne Syndrome"
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3404:DNA replication and repair-deficiency disorder
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1654:Cockayne Syndrome. Genetics Home Reference
1067:deposition, large pigment laden cells in a
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168:The underlying disorder is a defect in a
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767:due to anterograde and/or retrograde
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3315:Hutchinson–Gilford progeria syndrome
1717:The Lecturio Medical Concept Library
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1595:American Journal of Medical Genetics
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1502:Mechanisms of Ageing and Development
182:Hutchinson–Gilford progeria syndrome
176:It is named after English physician
2144:Cure for Cockayne Syndrome – type B
1453:(10th ed.). Saunders. p.
890:, and in some cases neurons in the
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855:sequences signals. No major brain
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443:repair of the breaks. During the
197:CS Type II is present from birth (
159:, resulting from mutations in the
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18:Cerebrooculofacioskeletal syndrome
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2745:Bannayan–Riley–Ruvalcaba syndrome
2304:
3459:Diseases named after discoverers
3184:Severe combined immunodeficiency
317:Cockayne syndrome is classified
149:, arising from mutations in the
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3107:Mismatch repair cancer syndrome
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1755:10.1590/1678-4685-GMB-2019-0085
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2980:DNA repair-deficiency disorder
2552:Bonnet–Dechaume–Blanc syndrome
1743:Genetics and Molecular Biology
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602:and it has a worse prognosis.
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494:), and they may be very thin (
157:Cockayne syndrome type B (CSB)
147:Cockayne syndrome type A (CSA)
13:
1:
3424:Autosomal recessive disorders
2547:Sakati–Nyhan–Tisdale syndrome
1689:https://omim.org/entry/610756
1390:
878:dominance. Severe cerebellar
3351:DeSanctis–Cacchione syndrome
3058:DeSanctis–Cacchione syndrome
3004:Aicardi–Goutières syndrome 4
2785:Tatton-Brown–Rahman syndrome
2755:Benign symmetric lipomatosis
2057:Proc. Natl. Acad. Sci. U.S.A
929:not commonly seen, although
722:Metachromatic leukodystrophy
720:– is patchy and segmental– "
682:usually beginning at age 2.
583:
570:
550:
473:
396:
7:
2875:Branchio-oto-renal syndrome
2750:Beckwith–Wiedemann syndrome
2294:"Orphanet: CAMFAK syndrome"
1904:Iyama T, Wilson DM (2016).
1357:
1312:thyroid-stimulating hormone
1099:, axonal loss, and gliosis
296:
249:machinery for synthesizing
10:
3475:
3356:Nijmegen breakage syndrome
3130:Nijmegen breakage syndrome
3046:Nucleotide excision repair
2847:Zimmermann–Laband syndrome
2799:Laurence–Moon–Bardet–Biedl
2760:Klippel–Trénaunay syndrome
2710:Caudal regression syndrome
2685:Klippel–Trénaunay syndrome
2647:Smith–Lemli–Opitz syndrome
2617:Cornelia de Lange syndrome
969:Loss of hair cells in the
964:sensorineural hearing loss
512:nucleotide excision repair
468:DNA damage theory of aging
441:homologous recombinational
422:nucleotide excision repair
120:, abnormal sensitivity to
26:
3399:
3328:
3305:
3273:
3265:Rothmund–Thomson syndrome
3245:
3236:
3163:Rothmund–Thomson syndrome
3138:
3115:
3083:
3044:
3035:
2986:
2819:
2798:
2735:
2695:Rubinstein–Taybi syndrome
2665:
2592:
2512:
2425:
2322:
2215:10.1016/j.arr.2016.08.002
1922:10.1016/j.jmb.2015.11.020
1870:10.1016/j.arr.2016.08.002
1749:(1 suppl. 1): e20190085.
1514:10.1016/j.mad.2013.02.006
1423:10.1007/s10038-006-0011-7
1410:Journal of Human Genetics
1364:Accelerated aging disease
1193:gastrointestinal motility
863:pattern with widening of
482:), are of short stature (
305:Cockayne syndrome has an
216:
65:
56:
48:
43:
33:Cockayne (disambiguation)
2765:Neurofibromatosis type I
2652:Snyder–Robinson syndrome
2602:1q21.1 deletion syndrome
2542:Saethre–Chotzen syndrome
2252:Pediatrics International
1496:Laugel, Vincent (2013).
871:are preserved. May show
229:occurs in the body, the
187:
3329:Other/related disorders
2995:Separation/initiation:
2675:Adducted thumb syndrome
2637:Silver–Russell syndrome
2203:Ageing Research Reviews
2078:10.1073/pnas.1507105112
2020:10.15252/embj.201490041
1858:Ageing Research Reviews
1713:"Cell Injury and Death"
1607:10.1002/ajmg.1320420115
1183:Gastrointestinal system
962:. Mixed conductive and
923:neurofibrillary tangles
104:Neill-Dingwall syndrome
52:Neill-Dingwall syndrome
3434:Neurological disorders
3366:Dyskeratosis congenita
3346:Baller–Gerold syndrome
3320:Restrictive dermopathy
3275:NER protein-associated
3025:Dyskeratosis congenita
2811:Laurence–Moon syndrome
2607:Aarskog–Scott syndrome
2562:Baller–Gerold syndrome
2505:Congenital abnormality
1812:10.1093/nar/21.25.5890
1691:. Published 2/12/2007.
1304:sexual characteristics
1285:atrophy. A successful
1156:Aortic root dilatation
1105:Musculoskeletal system
1095:atrophy, with partial
1028:Pigmentary retinopathy
973:, particularly in the
913:enlargement, enlarged
780:(especially depths of
732:are affected. Affects
675:Central nervous system
314:
178:Edward Alfred Cockayne
106:, is a rare and fatal
31:. For other uses, see
3371:Ataxia telangiectasia
3288:Xeroderma pigmentosum
3125:Ataxia–telangiectasia
3068:Xeroderma pigmentosum
2806:Bardet–Biedl syndrome
2690:Nail–patella syndrome
2582:Pierre Robin sequence
2522:Acrocephalosyndactyly
1565:10.1056/NEJMra0804615
1146:Cardiovascular system
1030:("salt and pepper").
1019:Corneal opacification
977:. Loss of neurons in
516:xeroderma pigmentosum
304:
203:xeroderma pigmentosum
128:), eye disorders and
3336:Li–Fraumeni syndrome
3179:Li–Fraumeni syndrome
2737:Overgrowth syndromes
2138:admin (2020-10-23).
1374:Degenerative disease
712:subdural hemorrhages
3454:Progeroid syndromes
3341:Rapadilino syndrome
3293:Trichothiodystrophy
3230:Progeroid syndromes
3167:RAPADILINO syndrome
3102:Muir–Torre syndrome
3089:DNA mismatch repair
2725:VACTERL association
2069:2015PNAS..112E3495W
1971:10.1093/nar/gku1279
1339:production of sweat
1249:Reproductive system
1241:hypoplastic kidneys
1169:medial thickening.
1127:. Stooped posture.
1083:. Loss of cells in
1002:vestibular ganglion
843:may show irregular
765:anterior horn cells
307:autosomal recessive
277:, several thousand
231:cellular metabolism
2680:Holt–Oram syndrome
2572:Goldenhar syndrome
2532:Carpenter syndrome
2426:External resources
2116:2015-09-24 at the
1289:has been reported.
1047:palpebral fissures
1006:endolymphatic duct
1004:. Collapse of the
951:vestibular systems
909:" may be present.
827:arteriolosclerosis
692:Delayed milestones
684:Mental retardation
522:Laboratory Studies
488:joint contractures
367:(also called CSB)
351:(also called CSA)
315:
3411:
3410:
3381:PIBI(D)S syndrome
3376:De Barsy syndrome
3301:
3300:
3283:Cockayne syndrome
3196:
3195:
3192:
3191:
3054:Cockayne syndrome
2972:Metabolic disease
2938:
2937:
2835:Feingold syndrome
2622:Dubowitz syndrome
2612:Cockayne syndrome
2537:Pfeiffer syndrome
2471:
2470:
2451:Cockayne Syndrome
2264:10.1111/ped.12635
2063:(27): E3495–504.
1959:Nucleic Acids Res
1800:Nucleic Acids Res
1464:978-0-7216-2921-6
1355:
1354:
1302:Normal secondary
1298:Endocrine systems
1200:gastrostomy tubes
1140:, disuse atrophy
1008:of pars inferior
983:auditory pathways
753:peripheral nerves
639:enamel hypoplasia
620:Clinical features
559:, an area of the
411:pyrimidine dimers
384:
383:
134:Failure to thrive
114:neurodegenerative
96:Cockayne syndrome
93:
92:
44:Cockayne syndrome
38:Medical condition
16:(Redirected from
3466:
3243:
3242:
3223:
3216:
3209:
3200:
3199:
3042:
3041:
2965:
2958:
2951:
2942:
2941:
2919:Donohue syndrome
2895:Timothy syndrome
2775:Proteus syndrome
2770:Perlman syndrome
2632:Robinow syndrome
2577:Moebius syndrome
2498:
2491:
2484:
2475:
2474:
2320:
2319:
2298:
2297:
2290:
2284:
2283:
2243:
2237:
2236:
2226:
2194:
2188:
2187:
2180:
2174:
2173:
2171:
2170:
2160:
2154:
2153:
2151:
2150:
2135:
2129:
2126:
2120:
2107:
2101:
2100:
2090:
2080:
2048:
2042:
2041:
2031:
2014:(10): 1399–416.
1999:
1993:
1992:
1982:
1950:
1944:
1943:
1933:
1901:
1892:
1891:
1881:
1849:
1834:
1833:
1823:
1791:
1785:
1784:
1774:
1734:
1728:
1727:
1725:
1723:
1709:
1703:
1698:
1692:
1685:
1679:
1676:
1659:
1652:
1635:
1632:
1619:
1618:
1590:
1577:
1576:
1548:
1542:
1541:
1508:(5–6): 161–170.
1493:
1487:
1484:
1469:
1468:
1452:
1442:
1436:
1435:
1425:
1401:
1379:Genetic disorder
1175:arteriosclerosis
917:magna are seen.
661:Photosensitivity
614:
613:
324:
323:
283:oxidative damage
271:oxidative damage
139:leukodystrophies
126:photosensitivity
89:
88:
72:Medical genetics
61:
41:
40:
21:
3474:
3473:
3469:
3468:
3467:
3465:
3464:
3463:
3414:
3413:
3412:
3407:
3395:
3324:
3297:
3269:
3255:Werner syndrome
3247:RecQ-associated
3232:
3227:
3197:
3188:
3158:Werner syndrome
3134:
3111:
3079:
3031:
2988:DNA replication
2982:
2976:DNA replication
2969:
2939:
2934:
2907:Marfan syndrome
2891:Keutel syndrome
2879:CHARGE syndrome
2863:Fraser syndrome
2821:
2820:Combined/other,
2815:
2794:
2790:Weaver syndrome
2731:
2661:
2657:Turner syndrome
2642:Seckel syndrome
2627:Noonan syndrome
2588:
2508:
2502:
2472:
2467:
2466:
2421:
2420:
2331:
2307:
2302:
2301:
2292:
2291:
2287:
2244:
2240:
2195:
2191:
2182:
2181:
2177:
2168:
2166:
2162:
2161:
2157:
2148:
2146:
2136:
2132:
2127:
2123:
2118:Wayback Machine
2108:
2104:
2049:
2045:
2000:
1996:
1951:
1947:
1902:
1895:
1850:
1837:
1792:
1788:
1735:
1731:
1721:
1719:
1711:
1710:
1706:
1699:
1695:
1686:
1682:
1677:
1662:
1653:
1638:
1633:
1622:
1591:
1580:
1559:(15): 1475–85.
1553:N. Engl. J. Med
1549:
1545:
1494:
1490:
1485:
1472:
1465:
1443:
1439:
1402:
1398:
1393:
1384:CAMFAK syndrome
1360:
1333:Eccrine systems
1322:pituitary gland
1171:Atherosclerosis
1053:Patchy loss of
979:spiral ganglion
955:Sensorineural,
919:Amyloid plaques
892:dentate nucleus
823:atherosclerosis
778:cerebral cortex
741:corpus callosum
726:oligodendroglia
608:
606:Recent research
599:
586:
573:
553:
545:
537:
535:Imaging Studies
524:
504:corneal opacity
476:
399:
299:
219:
190:
130:premature aging
102:), also called
83:
39:
36:
23:
22:
15:
12:
11:
5:
3472:
3462:
3461:
3456:
3451:
3446:
3444:Genodermatoses
3441:
3436:
3431:
3426:
3409:
3408:
3400:
3397:
3396:
3394:
3393:
3388:
3383:
3378:
3373:
3368:
3363:
3361:Fanconi anemia
3358:
3353:
3348:
3343:
3338:
3332:
3330:
3326:
3325:
3323:
3322:
3317:
3311:
3309:
3303:
3302:
3299:
3298:
3296:
3295:
3290:
3285:
3279:
3277:
3271:
3270:
3268:
3267:
3262:
3260:Bloom syndrome
3257:
3251:
3249:
3240:
3234:
3233:
3226:
3225:
3218:
3211:
3203:
3194:
3193:
3190:
3189:
3187:
3186:
3181:
3176:
3174:Fanconi anemia
3171:
3170:
3169:
3160:
3155:
3153:Bloom syndrome
3142:
3140:
3136:
3135:
3133:
3132:
3127:
3121:
3119:
3113:
3112:
3110:
3109:
3104:
3099:
3093:
3091:
3081:
3080:
3078:
3077:
3075:IBIDS syndrome
3072:
3071:
3070:
3060:
3050:
3048:
3039:
3033:
3032:
3030:
3029:
3028:
3027:
3009:
3008:
3007:
3006:
2992:
2990:
2984:
2983:
2968:
2967:
2960:
2953:
2945:
2936:
2935:
2933:
2932:
2931:
2930:
2928:Fryns syndrome
2922:
2910:
2898:
2882:
2866:
2850:
2838:
2825:
2823:
2817:
2816:
2814:
2813:
2808:
2802:
2800:
2796:
2795:
2793:
2792:
2787:
2782:
2780:Sotos syndrome
2777:
2772:
2767:
2762:
2757:
2752:
2747:
2741:
2739:
2733:
2732:
2730:
2729:
2728:
2727:
2722:
2717:
2712:
2697:
2692:
2687:
2682:
2677:
2671:
2669:
2663:
2662:
2660:
2659:
2654:
2649:
2644:
2639:
2634:
2629:
2624:
2619:
2614:
2609:
2604:
2598:
2596:
2590:
2589:
2587:
2586:
2585:
2584:
2579:
2574:
2569:
2564:
2556:
2555:
2554:
2549:
2544:
2539:
2534:
2529:
2527:Apert syndrome
2518:
2516:
2510:
2509:
2501:
2500:
2493:
2486:
2478:
2469:
2468:
2465:
2464:
2453:
2442:
2430:
2429:
2427:
2423:
2422:
2419:
2418:
2407:
2396:
2385:
2368:
2353:
2332:
2327:
2326:
2324:
2323:Classification
2317:
2316:
2306:
2305:External links
2303:
2300:
2299:
2285:
2258:(3): 339–347.
2238:
2189:
2175:
2155:
2130:
2121:
2102:
2043:
1994:
1945:
1893:
1835:
1806:(25): 5890–5.
1786:
1729:
1704:
1693:
1680:
1660:
1636:
1620:
1578:
1543:
1488:
1470:
1463:
1437:
1395:
1394:
1392:
1389:
1388:
1387:
1381:
1376:
1371:
1369:Biogerontology
1366:
1359:
1356:
1353:
1352:
1349:
1335:
1329:
1328:
1318:
1316:calcium levels
1308:growth hormone
1300:
1294:
1293:
1290:
1280:
1276:
1275:
1272:
1262:
1258:
1257:
1254:
1251:
1245:
1244:
1237:Renal arteries
1234:
1229:
1223:
1222:
1219:
1185:
1179:
1178:
1163:
1160:Cardiomyopathy
1148:
1142:
1141:
1132:
1129:Muscle wasting
1107:
1101:
1100:
1091:are affected.
1089:photoreceptors
1071:distribution.
1051:
1016:
1010:
1009:
987:Scala communis
967:
953:
943:
942:
900:Purkinje cells
816:leptomeningeal
812:String vessels
792:; also of the
788:, cerebellum,
715:
677:
671:
670:
668:
658:
644:
643:
641:
631:
625:
624:
621:
618:
617:Affected parts
607:
604:
598:
595:
585:
582:
572:
569:
552:
549:
544:
541:
536:
533:
523:
520:
514:(NER), unlike
500:telangiectasia
475:
472:
398:
395:
394:
393:
382:
381:
378:
373:
369:
368:
362:
357:
353:
352:
346:
341:
337:
336:
333:
328:
298:
295:
218:
215:
214:
213:
209:
206:
195:
189:
186:
118:nervous system
91:
90:
69:
63:
62:
54:
53:
50:
46:
45:
37:
9:
6:
4:
3:
2:
3471:
3460:
3457:
3455:
3452:
3450:
3447:
3445:
3442:
3440:
3437:
3435:
3432:
3430:
3429:Rare diseases
3427:
3425:
3422:
3421:
3419:
3406:
3405:
3398:
3392:
3389:
3387:
3386:BIDS syndrome
3384:
3382:
3379:
3377:
3374:
3372:
3369:
3367:
3364:
3362:
3359:
3357:
3354:
3352:
3349:
3347:
3344:
3342:
3339:
3337:
3334:
3333:
3331:
3327:
3321:
3318:
3316:
3313:
3312:
3310:
3308:
3304:
3294:
3291:
3289:
3286:
3284:
3281:
3280:
3278:
3276:
3272:
3266:
3263:
3261:
3258:
3256:
3253:
3252:
3250:
3248:
3244:
3241:
3239:
3235:
3231:
3224:
3219:
3217:
3212:
3210:
3205:
3204:
3201:
3185:
3182:
3180:
3177:
3175:
3172:
3168:
3164:
3161:
3159:
3156:
3154:
3151:
3150:
3149:
3148:
3147:RecQ helicase
3144:
3143:
3141:
3137:
3131:
3128:
3126:
3123:
3122:
3120:
3118:
3114:
3108:
3105:
3103:
3100:
3098:
3095:
3094:
3092:
3090:
3086:
3082:
3076:
3073:
3069:
3066:
3065:
3064:
3063:Thymine dimer
3061:
3059:
3055:
3052:
3051:
3049:
3047:
3043:
3040:
3038:
3034:
3026:
3023:
3022:
3021:
3020:
3015:
3011:
3010:
3005:
3002:
3001:
3000:
2999:
2994:
2993:
2991:
2989:
2985:
2981:
2977:
2973:
2966:
2961:
2959:
2954:
2952:
2947:
2946:
2943:
2929:
2926:
2925:
2923:
2920:
2916:
2915:
2911:
2908:
2904:
2903:
2899:
2896:
2892:
2888:
2887:
2883:
2880:
2876:
2872:
2871:
2867:
2864:
2860:
2859:
2855:
2851:
2848:
2844:
2843:
2839:
2836:
2832:
2831:
2827:
2826:
2824:
2818:
2812:
2809:
2807:
2804:
2803:
2801:
2797:
2791:
2788:
2786:
2783:
2781:
2778:
2776:
2773:
2771:
2768:
2766:
2763:
2761:
2758:
2756:
2753:
2751:
2748:
2746:
2743:
2742:
2740:
2738:
2734:
2726:
2723:
2721:
2718:
2716:
2713:
2711:
2708:
2707:
2705:
2701:
2698:
2696:
2693:
2691:
2688:
2686:
2683:
2681:
2678:
2676:
2673:
2672:
2670:
2668:
2664:
2658:
2655:
2653:
2650:
2648:
2645:
2643:
2640:
2638:
2635:
2633:
2630:
2628:
2625:
2623:
2620:
2618:
2615:
2613:
2610:
2608:
2605:
2603:
2600:
2599:
2597:
2595:
2594:Short stature
2591:
2583:
2580:
2578:
2575:
2573:
2570:
2568:
2565:
2563:
2560:
2559:
2557:
2553:
2550:
2548:
2545:
2543:
2540:
2538:
2535:
2533:
2530:
2528:
2525:
2524:
2523:
2520:
2519:
2517:
2515:
2511:
2506:
2499:
2494:
2492:
2487:
2485:
2480:
2479:
2476:
2463:
2459:
2458:
2454:
2452:
2448:
2447:
2443:
2441:
2437:
2436:
2432:
2431:
2428:
2424:
2417:
2413:
2412:
2408:
2406:
2402:
2401:
2397:
2395:
2391:
2390:
2386:
2384:
2381:
2378:
2374:
2373:
2369:
2367:
2363:
2362:
2358:
2354:
2351:
2347:
2343:
2342:
2338:
2334:
2333:
2330:
2325:
2321:
2315:
2314:
2309:
2308:
2295:
2289:
2281:
2277:
2273:
2269:
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2074:
2070:
2066:
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2025:
2021:
2017:
2013:
2009:
2005:
1998:
1990:
1986:
1981:
1976:
1972:
1968:
1965:(1): 247–58.
1964:
1960:
1956:
1949:
1941:
1937:
1932:
1927:
1923:
1919:
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1911:
1907:
1900:
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1365:
1362:
1361:
1350:
1348:
1344:
1340:
1336:
1334:
1331:
1330:
1327:
1326:thyroid gland
1323:
1319:
1317:
1313:
1309:
1305:
1301:
1299:
1296:
1295:
1291:
1288:
1284:
1281:
1278:
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1263:
1260:
1259:
1255:
1252:
1250:
1247:
1246:
1242:
1238:
1235:
1233:
1232:Renal failure
1230:
1228:
1225:
1224:
1220:
1217:
1213:
1212:liver enzymes
1209:
1205:
1201:
1198:
1194:
1190:
1186:
1184:
1181:
1180:
1176:
1172:
1168:
1164:
1161:
1157:
1153:
1149:
1147:
1144:
1143:
1139:
1136:
1133:
1130:
1126:
1122:
1118:
1114:
1111:
1108:
1106:
1103:
1102:
1098:
1097:demyelination
1094:
1090:
1086:
1082:
1078:
1074:
1070:
1066:
1062:
1059:
1056:
1052:
1050:
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1036:
1033:
1029:
1025:
1020:
1017:
1015:
1012:
1011:
1007:
1003:
999:
998:prototympanum
995:
992:
988:
984:
981:. Atrophy of
980:
976:
972:
968:
965:
961:
958:
954:
952:
948:
945:
944:
941:
939:
935:
932:
928:
927:Hirano bodies
924:
920:
916:
912:
908:
905:
901:
897:
893:
889:
885:
881:
877:
874:
870:
866:
862:
858:
857:malformations
854:
850:
846:
842:
838:
834:
832:
828:
824:
821:
817:
813:
809:
805:
803:
799:
795:
791:
787:
786:basal ganglia
783:
779:
775:
774:Calcification
770:
766:
762:
758:
754:
750:
746:
742:
738:
735:
731:
730:Schwann cells
727:
723:
719:
718:Demyelination
716:
713:
709:
705:
701:
697:
693:
689:
685:
681:
678:
676:
673:
672:
669:
666:
662:
659:
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649:
646:
645:
642:
640:
636:
635:Dental caries
632:
630:
627:
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619:
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615:
612:
603:
594:
591:
581:
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568:
566:
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517:
513:
509:
505:
501:
497:
493:
489:
485:
481:
471:
469:
465:
460:
458:
455:(rather than
454:
450:
446:
442:
438:
435:), a 5' – 3'
434:
430:
425:
423:
419:
416:
412:
408:
404:
391:
386:
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379:
377:
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312:
308:
303:
294:
292:
288:
284:
280:
276:
272:
268:
264:
260:
256:
255:developmental
252:
248:
245:, children's
244:
243:transcription
240:
236:
235:free radicals
232:
228:
224:
210:
207:
204:
200:
196:
192:
191:
185:
183:
179:
174:
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101:
97:
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81:
77:
73:
70:
68:
64:
60:
55:
51:
47:
42:
34:
30:
19:
3401:
3282:
3145:
3053:
3017:
3012:Termination/
2996:
2912:
2900:
2884:
2868:
2852:
2840:
2828:
2700:Gastrulation
2611:
2514:Craniofacial
2455:
2444:
2433:
2409:
2398:
2387:
2370:
2355:
2335:
2310:
2288:
2255:
2251:
2241:
2206:
2202:
2192:
2178:
2167:. Retrieved
2158:
2147:. Retrieved
2143:
2133:
2124:
2105:
2060:
2056:
2046:
2011:
2007:
1997:
1962:
1958:
1948:
1916:(1): 62–78.
1913:
1910:J. Mol. Biol
1909:
1861:
1857:
1803:
1799:
1789:
1746:
1742:
1732:
1720:. Retrieved
1716:
1707:
1696:
1683:
1601:(1): 68–84.
1598:
1594:
1556:
1552:
1546:
1505:
1501:
1491:
1448:
1440:
1416:(8): 701–5.
1413:
1409:
1399:
1227:Renal system
1208:splenomegaly
1204:Hepatomegaly
1197:percutaneous
1195:. Many have
1152:hypertension
1150:Accelerated
1117:Contractures
1079:atrophy and
1069:perivascular
1043:Enophthalmos
1022:
989:, thickened
960:hearing loss
835:
833:is present.
806:
772:
769:degeneration
737:white matter
680:Microcephaly
609:
600:
597:Epidemiology
587:
578:
574:
554:
546:
538:
525:
480:microcephaly
477:
461:
459:) template.
426:
400:
321:as follows:
316:
220:
175:
167:
160:
156:
150:
146:
143:white matter
103:
99:
95:
94:
3117:MRN complex
2822:known locus
2720:Sirenomelia
2446:GeneReviews
1210:, elevated
1191:. Abnormal
1135:Denervation
1093:Optic nerve
1081:hyperplasia
911:Ventricular
886:, granular
847:, multiple
820:accelerated
802:capillaries
749:spinal cord
543:Other Tests
437:exonuclease
415:transcribed
380:none known
319:genetically
311:inheritance
309:pattern of
80:dermatology
49:Other names
3418:Categories
3402:See also:
3238:DNA repair
3037:DNA repair
3014:telomerase
2715:Ectromelia
2400:DiseasesDB
2169:2023-07-06
2149:2023-07-06
1391:References
1337:Decreased
1269:testicular
1267:, smaller
1265:Micropenis
1216:metabolism
1214:. Altered
1165:Increased
1077:epithelial
1065:Lipofuscin
1039:Optic disk
996:, widened
975:basal turn
934:reactivity
882:. Loss of
837:Astrocytes
810:changes -
798:arterioles
763:. Loss of
761:cerebellum
623:pathology
565:cerebellum
464:DNA repair
429:DNA damage
424:(TC-NER).
275:human cell
267:metabolism
225:or excess
199:congenital
170:DNA repair
155:gene, and
3307:Lamin A/C
2924:Multiple
2507:syndromes
2435:eMedicine
2411:SNOMED CT
1763:1415-4757
1522:1872-6216
1306:. Normal
1287:pregnancy
1125:scoliosis
1110:Cachectic
1045:, Narrow
1024:Cataracts
957:high tone
931:ubiquitin
907:torpedoes
896:Dendrites
876:occipital
869:neocortex
853:FLAIR MRI
845:cytoplasm
841:microglia
818:vessels,
745:brainstem
590:prognosis
584:Prognosis
571:Treatment
561:forebrain
551:Neurology
508:Nystagmus
474:Diagnosis
397:Mechanism
291:apoptosis
263:molecular
223:hyperoxia
111:recessive
108:autosomal
76:neurology
67:Specialty
2998:RNASEH2A
2704:mesoderm
2567:Cyclopia
2457:Orphanet
2416:21086008
2352:Q87.110)
2272:25851792
2233:27507608
2209:: 3–17.
2114:Archived
2097:26100862
2038:25820262
1989:25505141
1940:26616585
1888:27507608
1864:: 3–17.
1781:32453336
1573:19812404
1538:19137836
1530:23428416
1432:16865293
1358:See also
1218:of drugs
1138:myopathy
1121:Kyphosis
1113:dwarfism
1085:ganglion
1075:pigment
1061:granules
1041:pallor,
940:present
915:cisterna
884:Purkinje
873:parietal
808:Vascular
794:arteries
790:thalamus
757:Neuronal
734:cerebral
724:". Both
704:seizures
496:cachetic
492:kyphosis
484:dwarfism
449:G1 phase
297:Genetics
251:proteins
122:sunlight
2440:ped/424
2394:D003057
2280:5311897
2224:5195851
2088:4500203
2065:Bibcode
2029:4491999
1980:4288174
1931:4738086
1879:5195851
1830:8290349
1772:7250278
1615:1308368
1320:Normal
1283:Ovarian
1279:Females
1187:Severe
1073:Retinal
1058:pigment
1055:melanin
971:cochlea
947:Hearing
888:neurons
880:atrophy
831:Gliosis
776:of the
708:strokes
696:Tremors
667:access.
557:putamen
433:DCLRE1A
279:lesions
247:genetic
29:cocaine
2558:Other
2383:216411
2380:133540
2377:216400
2278:
2270:
2231:
2221:
2095:
2085:
2036:
2026:
2008:EMBO J
1987:
1977:
1938:
1928:
1886:
1876:
1828:
1821:310470
1818:
1779:
1769:
1761:
1722:7 July
1613:
1571:
1536:
1528:
1520:
1461:
1430:
1347:saliva
1189:reflux
1167:intima
1035:pupils
1032:Miotic
1014:Vision
994:curare
991:stapes
904:axonal
849:nuclei
800:, and
751:, and
710:, and
700:ataxia
688:low IQ
665:venous
376:216411
360:133540
344:216400
287:genome
227:oxygen
217:Causes
165:gene.
82:
3139:Other
2667:Limbs
2366:759.8
2346:Q87.1
2276:S2CID
1534:S2CID
1343:tears
1261:Males
938:axons
865:sulci
861:gyral
782:sulci
686:with
656:nails
466:(see
418:genes
365:ERCC6
349:ERCC8
335:Gene
327:Type
259:blood
188:Types
162:ERCC6
152:ERCC8
3019:DKC1
2978:and
2405:2907
2389:MeSH
2372:OMIM
2361:9-CM
2350:ILDS
2268:PMID
2229:PMID
2093:PMID
2034:PMID
1985:PMID
1936:PMID
1884:PMID
1826:PMID
1777:PMID
1759:ISSN
1724:2021
1611:PMID
1569:PMID
1526:PMID
1518:ISSN
1459:ISBN
1428:PMID
1324:and
1271:size
949:and
839:and
825:and
728:and
652:hair
648:Skin
629:Face
588:The
405:and
331:OMIM
3085:MSI
2462:191
2357:ICD
2337:ICD
2260:doi
2219:PMC
2211:doi
2083:PMC
2073:doi
2061:112
2024:PMC
2016:doi
1975:PMC
1967:doi
1926:PMC
1918:doi
1914:428
1874:PMC
1866:doi
1816:PMC
1808:doi
1767:PMC
1751:doi
1603:doi
1561:doi
1557:361
1510:doi
1506:134
1455:575
1418:doi
936:of
898:of
804:).
470:).
457:DNA
453:RNA
407:CSB
403:CSA
293:).
239:DNA
221:If
3420::
3016::
2974::
2914:19
2902:15
2893:,
2886:12
2877:,
2858:13
2706::
2460::
2449::
2438::
2414::
2403::
2392::
2375::
2364::
2344::
2341:10
2274:.
2266:.
2256:57
2254:.
2250:.
2227:.
2217:.
2207:33
2205:.
2201:.
2142:.
2091:.
2081:.
2071:.
2059:.
2055:.
2032:.
2022:.
2012:34
2010:.
2006:.
1983:.
1973:.
1963:43
1961:.
1957:.
1934:.
1924:.
1912:.
1908:.
1896:^
1882:.
1872:.
1862:33
1860:.
1856:.
1838:^
1824:.
1814:.
1804:21
1802:.
1798:.
1775:.
1765:.
1757:.
1747:43
1745:.
1741:.
1715:.
1663:^
1639:^
1623:^
1609:.
1599:42
1597:.
1581:^
1567:.
1555:.
1532:.
1524:.
1516:.
1504:.
1500:.
1473:^
1457:.
1426:.
1414:51
1412:.
1408:.
1351:-
1345:,
1341:,
1314:,
1310:,
1292:-
1274:-
1256:-
1243:.
1221:-
1206:,
1202:.
1177:.
1173:,
1162:.
1158:.
1154:.
1123:,
1119:.
1115:.
1063:.
1049:.
1037:,
1021:.
985:.
925:,
921:,
894:.
829:.
796:,
784:,
771:.
755:.
747:,
743:,
739:,
714:.
706:,
702:,
698:,
690:.
654:,
650:,
637:,
445:G0
372:C
356:B
340:A
132:.
100:CS
78:,
74:,
3222:e
3215:t
3208:v
3165:/
3087:/
3056:/
2964:e
2957:t
2950:v
2921:)
2917:(
2909:)
2905:(
2897:)
2889:(
2881:)
2873:(
2870:8
2865:)
2861:(
2856:/
2854:4
2849:)
2845:(
2842:3
2837:)
2833:(
2830:2
2702:/
2497:e
2490:t
2483:v
2359:-
2348:(
2339:-
2329:D
2296:.
2282:.
2262::
2235:.
2213::
2186:.
2172:.
2152:.
2099:.
2075::
2067::
2040:.
2018::
1991:.
1969::
1942:.
1920::
1890:.
1868::
1832:.
1810::
1783:.
1753::
1726:.
1617:.
1605::
1575:.
1563::
1540:.
1512::
1467:.
1434:.
1420::
1253:-
1131:.
694:.
447:/
313:.
124:(
98:(
35:.
20:)
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