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| | {{Short description|A rare genetic disorder characterized by short stature and increased cancer risk}} |
| | [[File:Bloom's.jpg|thumb|An individual with Bloom syndrome|left]] |
| | [[Image:Hyper_sister_chromatid_exchanges.tiff|thumb|Bloom syndrome metaphase cells exhibit frequent sister chromatid exchanges.|left]] |
| {{Infobox medical condition (new) | | {{Infobox medical condition (new) |
| | name = Bloom syndrome | | | name = Bloom syndrome |
| | image = 4cgz.png | | | image = 4cgz.png |
| | caption = Crystal structure of the Bloom's syndrome helicase BLM in complex with DNA (PDB ID: 4CGZ). | | | caption = Crystal structure of the Bloom's syndrome helicase BLM in complex with DNA (PDB ID: 4CGZ). |
| | synonyms = | | | synonyms = Congenital telangiectatic erythema |
| || symptoms =
| | | symptoms = Growth deficiency, sun-sensitive skin rash, narrow face, high-pitched voice, immunodeficiency |
| | complications = | | | complications = Increased risk of cancer, diabetes, chronic lung disease, infertility in males |
| | onset = | | | onset = Present from birth |
| | duration = | | | duration = Lifelong |
| | types = | | | types = |
| | causes = | | | causes = Mutations in the ''[[BLM (gene)|BLM]]'' gene; autosomal recessive inheritance |
| | risks = | | | risks = Higher prevalence among [[Ashkenazi Jews]] |
| | diagnosis = | | | diagnosis = [[Genetic testing]], clinical evaluation, sister chromatid exchange test |
| | differential = | | | differential = [[Fanconi anemia]], [[Xeroderma pigmentosum]], [[Ataxia telangiectasia]] |
| | prevention = | | | prevention = Genetic counseling |
| | treatment = | | | treatment = Symptomatic and supportive care, cancer screening and management |
| | medication = | | | medication = Antibiotics for infections, treatments for complications (e.g., insulin for diabetes) |
| | prognosis = | | | prognosis = Reduced life expectancy; many develop cancer at an early age |
| | frequency = | | | frequency = Rare (fewer than 300 cases reported worldwide) |
| | deaths = | | | deaths = Usually related to cancer or infections |
| }} | | }} |
| '''Bloom syndrome''' (often abbreviated as '''BS''' in literature)<ref>{{OMIM|210900|Bloom Syndrome; BLM}}</ref> is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the ''BLM'' gene which is a member of the RecQ DNA [[helicase]] family. Mutations in other members of this family, namely [[WRN (gene)|WRN]] and RECQL4, are associated with the clinical entities [[Werner syndrome]] and Rothmund-Thomson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition. | | [[Image:autorecessive.svg|thumb|left|Bloom syndrome has an autosomal recessive pattern of inheritance.]] |
| | '''Bloom syndrome''' is a rare [[autosomal recessive]] genetic disorder characterized by short stature, a sun-sensitive [[skin rash]], and an increased risk of [[cancer]]. It is caused by mutations in the [[BLM gene]], which is responsible for encoding a protein that helps maintain the stability of [[DNA]]. |
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| Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and [[sister chromatid exchange]]s (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.<ref>{{cite journal |author=Bloom D |title=Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity |journal=American Journal of Diseases of Children |volume=88 |issue=6 |pages=754–8 |year=1954 |pmid=13206391 |doi=10.1001/archpedi.1954.02050100756008}}</ref>
| | ==Genetics== |
| | Bloom syndrome is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The [[BLM gene]] is located on chromosome 15, and mutations in this gene lead to a deficiency in the BLM protein, a type of [[helicase]] that is crucial for [[DNA repair]] and [[genomic stability]]. |
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| Bloom syndrome has also appeared in the older literature as '''Bloom-Torre-Machacek syndrome'''.<ref name="Andrews">{{cite book |author1=James, William |author2=Berger, Timothy |author3=Elston, Dirk |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders |year=2005 |isbn=978-0-7216-2921-6 |page=575 |edition=10th}}</ref>
| | ==Clinical Features== |
| | Individuals with Bloom syndrome typically present with several characteristic features: |
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| ==Presentation==
| | * '''Short stature''': Affected individuals are significantly shorter than their peers. |
| The most prominent feature of Bloom syndrome is proportional small size. The small size is apparent in utero. At birth, neonates exhibit rostral to caudal lengths, head circumferences, and birth weights that are typically below the third percentile.<ref>{{cite journal |last1=Keller |first1=C |display-authors=et al. |title=Growth deficiency and malnutrition in Bloom syndrome |journal=J Pediatr |date=Apr 1999 |volume=134 |issue=4 |pages=472–479 |pmid=10190923 |doi=10.1016/s0022-3476(99)70206-4 }}</ref>
| | * '''Sun-sensitive skin rash''': A distinctive rash often appears on the face, particularly on the cheeks and nose, after exposure to the sun. |
| | | * '''Increased cancer risk''': There is a markedly increased risk of developing various types of [[cancer]], often at a younger age than the general population. |
| The second most commonly noted feature is a rash on the face that develops early in life as a result of sun exposure. The facial rash appears most prominently on the cheeks, nose, and around the lips. It is described as [[erythema]]tous, that is red and inflamed, and [[telangiectasia|telangiectatic]], that is characterized by dilated blood vessels at the skin's surface. The rash commonly also affects the backs of the hands and neck, and it can develop on any other sun-exposed areas of the skin. The rash is variably expressed, being present in a majority but not all persons with Bloom syndrome, and it is on average less severe in females than in males. Moreover, the sun sensitivity can resolve in adulthood. There are other dermatologic changes, including hypo-pigmented and hyper-pigmented areas, [[cafe-au-lait spot]]s, and telangiectasias, which can appear on the face and on the ocular surface.
| | * '''Immunodeficiency''': Some individuals may have a weakened [[immune system]], leading to increased susceptibility to infections. |
| | | * '''Facial features''': Distinctive facial features may include a long, narrow face, prominent nose, and small lower jaw. |
| There is a characteristic facial appearance that includes a long, narrow face; prominent nose, cheeks, and ears; and [[micrognathism]] or undersized jaw. The voice is high-pitched and squeaky.
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| [[File:Bloom's.jpg|thumb|right|An individual with Bloom syndrome]]
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| There are a variety of other features that are commonly associated with Bloom syndrome. There is a moderate [[immune deficiency]], characterized by deficiency in certain immunoglobulin classes and a generalized proliferative defect of B and T cells. The immune deficiency is thought to be the cause of recurrent [[pneumonia]] and middle ear infections in persons with the syndrome.<ref>{{Cite journal|title = Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease.|last = German|first = James M.D.|date = November 1993|journal = Medicine|doi = 10.1097/00005792-199311000-00003 |pmid = 8231788|volume=72|issue = 6|pages=393–406}}</ref> Infants can exhibit frequent gastrointestinal upsets, with reflux, vomiting, and diarrhea, and there is a remarkable lack in interest in food. There are endocrine disturbances, particularly abnormalities of carbohydrate metabolism, insulin resistance, and susceptibility to [[type 2 diabetes]], dyslipidemia, and compensated hypothyroidism.<ref>{{cite journal |last1=Diaz |first1=A |display-authors=et al.|title=Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome |journal=Horm Res |date=Jun 9, 2006 |volume=66 |issue=3 |pages=111–117 |pmid=16763388|doi=10.1159/000093826 }}</ref> Persons with Bloom syndrome exhibit a paucity of subcutaneous fat. There is reduced fertility, characterized by a failure in males to produce [[spermatozoa|sperm]] (azoospermia) and premature cessation of menses (premature [[menopause]]) in females. Despite these reductions, several women with Bloom syndrome have had children, and there is a single report of a male with Bloom syndrome bearing children.<ref>{{cite journal |last1=Ben Salah |first1=G |display-authors=et al.|title=A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members |journal=Mol Biol Rep |date=Nov 2014 |volume=41 |issue=11 |pages=7373–7380 |doi=10.1007/s11033-014-3624-5 |pmid=25129257}}</ref>
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| Although some persons with Bloom syndrome can struggle in school with subjects that require abstract thought, there is no evidence that [[intellectual disability]] is more common in Bloom syndrome than in other people.
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| The most serious and frequent complication of Bloom syndrome is cancer. In the 281 persons followed by the Bloom Syndrome Registry, 145 persons (51.6%) have been diagnosed with a malignant neoplasm, and there have been 227 malignancies.{{sfnp|Flanagan|Cunniff|2019}} The types of cancer and the anatomic sites at which they develop resemble the cancers that affect persons in the general population. The age of diagnosis for these cancers is earlier than for the same cancer in normal persons. And many persons with Bloom syndrome have been diagnosed with multiple cancers. The average life span is approximately 27 years. The most common cause of death in Bloom syndrome is from cancer. Other complications of the disorder include chronic obstructive lung disease and type 2 diabetes, as noted above.
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| There are a variety of excellent sources for more detailed clinical information about Bloom syndrome.{{sfnp|Flanagan|Cunniff|2019}}<ref>{{cite journal |vauthors=Cunniff CM |display-authors=et al. |title=Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition |journal=Mol Syndromol |date=2016 |volume=8 |issue=1 |pages=4–23 |pmid=28232778|pmc=5260600 |doi=10.1159/000452082 }}</ref>
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| There is a closely related entity that is now referred to as Bloom-syndrome-like disorder (BSLD) which is caused by mutations in components of the same protein complex to which the ''BLM'' gene product belongs, including ''TOP3A'', which encodes the type I topoisomerase topoisomerase 3 alpha, ''RMI1'', and ''RMI2''. The features of BSLD include small size and dermatologic findings, such as cafe-au-lait spots, and the presence of the once pathognomic elevated SCEs is reported for persons with mutations in ''TOP3A'' and ''RMI1''.<ref name=pmc5157948>{{cite journal |display-authors=1 |last1=Hudson |first1=Damien F. |last2=Amor |first2=David J. |last3=Boys |first3=Amber |last4=Butler |first4=Kathy |last5=Williams |first5=Lorna |last6=Zhang |first6=Tao |last7=Kalitsis |first7=Paul |title=Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome |journal=PLoS Genet |date=15 December 2016 |volume=12 |issue=12 |at=e1006483 |doi=10.1371/journal.pgen.1006483 |doi-access=free |pmid=27977684 |pmc=5157948}}</ref><ref>{{cite journal |vauthors=Martin CA |display-authors=et al. |title=Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |journal=Am J Hum Genet |volume=103 |issue=2 |pages=221–231 |doi=10.1016/j.ajhg.2018.07.001 |pmid=30057030|pmc=6080766 |year=2018 }}</ref>
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| Bloom syndrome shares some features with [[Fanconi anemia]] possibly because there is overlap in the function of the proteins mutated in this related disorder.<ref name="pmid20064461">{{cite journal |vauthors=Deans AJ, West SC |title= FANCM connects the genome instability disorders Bloom syndrome and Fanconi Anemia |journal= Mol. Cell |volume= 36 |issue= 6 |pages= 943–53 |date= December 2009 |pmid= 20064461 |doi= 10.1016/j.molcel.2009.12.006 }}</ref>
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| == Genetics ==
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| [[Image:Hyper_sister_chromatid_exchanges.tiff|thumb|right|Bloom syndrome metaphase cells exhibit frequent sister chromatid exchanges.]]
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| Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene ''BLM''.<ref>{{cite journal |vauthors=Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J | year = 1995 | title = The Bloom's syndrome gene product is homologous to RecQ helicases | url = | journal = Cell | volume = 83 | issue = 4| pages = 655–666 | doi=10.1016/0092-8674(95)90105-1 | pmid=7585968}}</ref> As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome. The mutations in BLM associated with Bloom syndrome are nulls and missense mutations that are catalytically inactive.<ref>{{cite journal |vauthors=German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA | year = 2007 | title = Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry | url = | journal = Human Mutation | volume = 28 | issue = 8| pages = 743–753 | doi=10.1002/humu.20501 | pmid=17407155}}</ref> The cells from persons with Bloom syndrome exhibit a striking genomic instability that is characterized by hyper-recombination and hyper-mutation. Human BLM cells are sensitive to DNA damaging agents such as UV and methyl methanesulfonate,<ref name="pmid15509577">{{cite journal |vauthors=So S, Adachi N, Lieber MR, Koyama H |title=Genetic interactions between BLM and DNA ligase IV in human cells |journal=J. Biol. Chem. |volume=279 |issue=53 |pages=55433–42 |year=2004 |pmid=15509577 |doi=10.1074/jbc.M409827200 |url=|doi-access=free }}</ref> indicating deficient repair capability. At the level of the chromosomes, the rate of [[sister chromatid exchange]] in Bloom's syndrome is approximately 10 fold higher than normal and quadriradial figures, which are the cytologic manifestations of crossing-over between homologous chromosome, are highly elevated. Other chromosome manifestations include chromatid breaks and gaps, telomere associations, and fragmented chromosomes.<ref>{{cite journal | author = German J | date = Jan 1995 | title = Bloom's syndrome | url = | journal = Dermatol Clin | volume = 13 | issue = 1| pages = 7–18 | pmid = 7712653 | doi = 10.1016/S0733-8635(18)30101-3 }}</ref> The hyper-recombination can also be detected by molecular assays <ref>{{cite journal |vauthors=Langlois RG, Bigbee WL, Jensen RH, German J | date = Jan 1989 | title = Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome | doi = 10.1073/pnas.86.2.670 | journal = Proc Natl Acad Sci U S A | volume = 86 | issue = 2| pages = 670–4 | pmid=2911598 | pmc=286535| bibcode = 1989PNAS...86..670L }}</ref> The ''BLM ''gene is a member of the protein family referred to as [[RecQ helicase]]s. The diffusion of BLM has been measured to 1.34 <math> \tfrac{\mathrm{\mu m}^2}{\mathrm{s}} </math> in nucleoplasm and 0.13 <math> \textstyle \tfrac{\mathrm{\mu m}^2}{\mathrm{s}} </math> at nucleoli <ref name="Bendtsen_2014">{{cite journal |author1=Kristian Moss Bendtsen |author2=Martin Borch Jensen |author3=Alfred May |author4=Lene Juel Rasmussen |author5=Ala Trusina |author6=Vilhelm A. Bohr |author7=Mogens H. Jensen | title = Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli | journal = European Biophysics Journal | year = 2014 | pmid = 25119658 |pmc=5576897 | doi=10.1007/s00249-014-0981-x | volume=43 |issue=10–11 | pages=509–16}}</ref> DNA helicases are enzymes that attach to DNA and temporarily unravel the double helix of the DNA molecule. DNA helicases function in DNA replication and DNA repair. BLM very likely functions in DNA replication, as cells from persons with Bloom syndrome exhibit multiple defects in DNA replication, and they are sensitive to agents that obstruct DNA replication.
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| The BLM helicase is a member of a protein complex with topoisomerase III alpha, RMI1 and RMI2, also known as BTRR or the dissolvasome.<ref>{{cite journal |last1=Bizard |first1=A. H. |last2=Hickson |first2=I. D. |title=The Dissolution of Double Holliday Junctions |journal=Cold Spring Harbor Perspectives in Biology |date=1 July 2014 |volume=6 |issue=7 |pages=a016477 |doi=10.1101/cshperspect.a016477|pmid=24984776 |pmc=4067992 }}</ref> Bloom-like phenotypes have been associated with mutations in topoisomerase III alpha, RMI1<ref>{{cite journal |display-authors=1 |last1=Martin |first1=Carol-Anne |last2=Sarlós |first2=Kata |last3=Logan |first3=Clare V. |last4=Thakur |first4=Roshan Singh |last5=Parry |first5=David A. |last6=Bizard |first6=Anna H. |last7=Leitch |first7=Andrea |last8=Cleal |first8=Louise |last9=Ali |first9=Nadia Shaukat |last10=Al-Owain |first10=Mohammed A. |last11=Allen |first11=William |last12=Altmüller |first12=Janine |last13=Aza-Carmona |first13=Miriam |last14=Barakat |first14=Bushra A.Y. |last15=Barraza-García |first15=Jimena |last16=Begtrup |first16=Amber |last17=Bogliolo |first17=Massimo |last18=Cho |first18=Megan T. |last19=Cruz-Rojo |first19=Jaime |last20=Dhahrabi |first20=Hassan Ali Mundi |last21=Elcioglu |first21=Nursel H. |last22=Gorman |first22=Gráinne S. |last23=Jobling |first23=Rebekah |last24=Kesterton |first24=Ian |last25=Kishita |first25=Yoshihito |last26=Kohda |first26=Masakazu |last27=Le Quesne Stabej |first27=Polona |last28=Malallah |first28=Asam Jassim |last29=Nürnberg |first29=Peter |last30=Ohtake |first30=Akira |last31=Okazaki |first31=Yasushi |last32=Pujol |first32=Roser |last33=Ramirez |first33=Maria José |last34=Revah-Politi |first34=Anya |last35=Shimura |first35=Masaru |last36=Stevens |first36=Paul |last37=Taylor |first37=Robert W. |last38=Turner |first38=Lesley |last39=Williams |first39=Hywel |last40=Wilson |first40=Carolyn |last41=Yigit |first41=Gökhan |last42=Zahavich |first42=Laura |last43=Alkuraya |first43=Fowzan S. |last44=Surralles |first44=Jordi |last45=Iglesais |first45=Alejandro |last46=Murayama |first46=Kei |last47=Wollnik |first47=Bernd |last48=Dattani |first48=Mehul |last49=Heath |first49=Karen E. |last50=Hickson |first50=Ian D. |last51=Jackson |first51=Andrew P. |title=Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |journal=The American Journal of Human Genetics |date=August 2018 |volume=103 |issue=2 |pages=221–231 |doi=10.1016/j.ajhg.2018.07.001|pmid=30057030 |pmc=6080766 }}</ref> and RMI2 genes.<ref name=pmc5157948/>
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| ===Relationship to cancer and aging===
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| As noted above, there is greatly elevated rate of mutation in Bloom syndrome and the genomic instability is associated with a high risk of [[cancer]] in affected individuals.<ref>{{cite journal | author = German J | date = Jan 1997 | title = Bloom's syndrome. XX. The first 100 cancers | url = | journal = Cancer Genet Cytogenet | volume = 93 | issue = 1| pages = 100–6 | doi=10.1016/s0165-4608(96)00336-6| pmid = 9062585 }}</ref> The cancer predisposition is characterized by 1) broad spectrum, including leukemias, lymphomas, and carcinomas, 2) early age of onset relative to the same cancer in the general population, and 3) multiplicity, that is, synchronous or metachronous cancers. There is at least one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may develop cancer at any age. The average age of cancer diagnoses in the cohort is approximately 26 years old.<ref name="weill.cornell.edu">{{Cite web | url=http://weill.cornell.edu/bsr/ |title = Bloom Syndrome Registry | Pediatrics}}</ref>
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| ==Pathophysiology==
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| When a cell prepares to divide to form two cells, the chromosomes are duplicated so that each new cell will get a complete set of chromosomes. The duplication process is called DNA replication. Errors made during DNA replication can lead to mutations. The BLM protein is important in maintaining the stability of the DNA during the replication process. Lack of BLM protein or protein activity leads to an increase in mutations; however, the molecular mechanism(s) by which BLM maintains stability of the chromosomes is still a very active area of research.
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| Persons with Bloom syndrome have an enormous increase in exchange events between homologous chromosomes or sister chromatids (the two DNA molecules that are produced by the DNA replication process); and there are increases in chromosome breakage and rearrangements compared to persons who do not have Bloom's syndrome. Direct connections between the molecular processes in which BLM operates and the chromosomes themselves are under investigation. The relationships between molecular defects in Bloom syndrome cells, the chromosome mutations that accumulate in somatic cells (the cells of the body), and the many clinical features seen in Bloom syndrome are also areas of intense research.
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| [[Image:autorecessive.svg|thumb|right|Bloom syndrome has an autosomal recessive pattern of inheritance.]]
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| ==Diagnosis== | | ==Diagnosis== |
| | Diagnosis of Bloom syndrome is typically based on clinical features and confirmed by genetic testing. The presence of increased [[sister chromatid exchange]] in cultured cells is a hallmark of the disorder. Genetic testing can identify mutations in the [[BLM gene]] to confirm the diagnosis. |
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| Bloom syndrome is diagnosed using any of three tests - the presence of quadriradial (Qr, a four-armed chromatid interchange) in cultured blood lymphocytes, and/or the elevated levels of [[sister chromatid exchange]] in cells of any type, and/or the mutation in the BLM gene. The US [[Food and Drug Administration]] (FDA) announced on February 19, 2015 that they have authorized marketing of a direct-to-consumer genetic test from [[23andMe]].<ref name="23andmefda">{{cite web |url=https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm435003.htm |title=FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome |publisher=U.S. Food and Drug Administration |access-date=19 May 2015}}</ref> The test is designed to identify healthy individuals who carry a gene that could cause Bloom Syndrome in their offspring.{{sfnp|Flanagan|Cunniff|2019}}
| | ==Management== |
| | | There is no cure for Bloom syndrome, and management focuses on monitoring and treating symptoms. Regular cancer screenings are essential due to the high risk of malignancies. Sun protection measures, such as wearing protective clothing and using sunscreen, are recommended to prevent skin damage. Supportive therapies may be needed for infections and other complications. |
| ==Treatment==
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| Bloom syndrome has no specific treatment; however, avoiding sun exposure and using sunscreens can help prevent some of the cutaneous changes associated with photo-sensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable. | |
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| == Epidemiology ==
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| Bloom syndrome is an extremely rare disorder in most populations and the frequency of the disease has not been measured in most populations. However, the disorder is relatively more common amongst people of Central and Eastern European [[Ashkenazi]] Jewish background. Approximately 1 in 48,000 [[Ashkenazi Jews]] are affected by Bloom syndrome, who account for about one-third of affected individuals worldwide.<ref>{{cite journal |vauthors=Li L, Eng C, Desnick B, German J, Ellis NA | year = 1998 | title = Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population | url = | journal = Mol Genet Metab | volume = 64 | issue = 4| pages = 286–290 | doi = 10.1006/mgme.1998.2733 | pmid = 9758720 }}</ref>
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| === Bloom's Syndrome Registry ===
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| The Bloom's Syndrome Registry lists 265 individuals reported as suffering from this rare disorder (as of 2009), collected from the time it was first recognized in 1954. The registry was developed as a surveillance mechanism to observe the effects of cancer in the patients, which has shown 122<ref>{{Cite web|url = http://weill.cornell.edu/bsr/data_from_registry/|title = Data from the Bloom's Syndrome Registry, 2009|date = 2009|accessdate = 17 April 2015|website = Weill Cornell Medical College|publisher = Weill Cornell Medical Center}}</ref> individuals have been diagnosed with cancer. It also acts as a report to show current findings and data on all aspects of the disorder.<ref>{{Cite journal|title = Bloom's syndrome. V. Surveillance for cancer in affected families|last = German|first = James|date = 23 April 2008|journal = Clinical Genetics|doi = 10.1111/j.1399-0004.1977.tb00919.x|pmid = 908169|last2 = Bloom|first2 = David|last3 = Passarge|first3 = Eberhard|volume=12|issue = 3|pages=162–168}}</ref>
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| ==See also==
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| *[[Accelerated aging disease]]
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| *[[Bloom syndrome (gene)]]
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| *[[DNA repair]]
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| *[[Progeria]]
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| *[[Tumor M2-PK]]
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| == References == | | ==Prognosis== |
| {{Reflist}}
| | The prognosis for individuals with Bloom syndrome varies depending on the severity of symptoms and the development of cancer. With careful monitoring and management, some individuals can live into adulthood, although the risk of early death from cancer remains significant. |
| * {{cite journal |ref=harv |vauthors=Flanagan M, Cunniff CM |title=Bloom syndrome |date=February 14, 2019 |orig-year=March 22, 2006 |veditors=Adam MP, Ardinger HH, Pagon RA |display-editors=etal |journal=GeneReviews |location=Seattle (WA) |publisher=University of Washington |pmid=20301572 |url=https://www.ncbi.nlm.nih.gov/books/NBK1398/ |accessdate=July 14, 2019}}
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| ==Further reading==
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| *{{cite book |editor=Margaret P Adam |editor2=Holly H Ardinger |editor3=Roberta A Pagon |editor4=Stephanie E Wallace |title=GeneReviews |publisher=University of Washington |location=Seattle (WA) |issn=2372-0697 |url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ |display-editors=etal|year=1993 }}
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| | ==Related pages== |
| | * [[Genetic disorder]] |
| | * [[DNA repair]] |
| | * [[Cancer]] |
| | * [[Autosomal recessive inheritance]] |
| == External links == | | == External links == |
| {{Medical resources | | {{Medical resources |
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| *{{NLM|bloomsyndrome}} | | *{{NLM|bloomsyndrome}} |
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| {{Congenital malformations and deformations of integument}} | | {{Congenital malformations and deformations of integument}} |
| {{DNA repair-deficiency disorder}} | | {{DNA repair-deficiency disorder}} |
| {{Progeroid syndromes}} | | {{Progeroid syndromes}} |
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| [[Category:Chromosome instability syndromes]] | | [[Category:Chromosome instability syndromes]] |
| [[Category:Genodermatoses]] | | [[Category:Genodermatoses]] |
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| [[Category:Syndromes with tumors]] | | [[Category:Syndromes with tumors]] |
| [[Category:Syndromes affecting stature]] | | [[Category:Syndromes affecting stature]] |
| | [[Category:Genetic disorders]] |
| | [[Category:Autosomal recessive disorders]] |
