Additionally, recent health supervision guidelines suggest screening and family education on the signs and symptoms of hypothyroidism, including fatigue, constipation, cold sensitivity, and weight gain. Bloom syndrome. Absence of information as to the ideal dosages makes such treatment particularly challenging to the physician; nevertheless, the fact that the cancers themselves often appear unusually responsive to the treatment justifies the special effort. Genetic counseling is recommended for people with Bloom syndrome and their families. Hum Mutat 28 (8): 743-53, 2007), 87% of patients diagnosed with Bloom’s Syndrome were reported to have two BLM mutations. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Seattle (WA): University of Washington, Seattle 2. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. Health supervision recommendations that address diagnosis, treatment and surveillance for complications in persons with Bloom syndrome have been published [Cunniff et al. If an individual with BSyn experiences recurrent, severe, or opportunistic infection, then immunodeficiency screening, including immunoglobulin level, antibody responses to vaccines, and quantitative B and T lymphocyte measurements, are recommended. The treatment of Bloom syndrome is symptomatic and supportive. We remove all identifying information when posting a question to protect your privacy. Because abnormalities have been identified in the lipid profile of persons with BSyn, caution should be exercised in the use of high fat and/or high cholesterol diets. NORD strives to open new assistance programs as funding allows. 2002-2012. Nonetheless, SCE analysis may be useful for diagnosis of BSyn in circumstances where only one BLM mutation is identified and molecular genetic testing finds no mutations in RMI1, RMI2 or TOP3A. Cancer Res. RecQ helicases: caretakers of the genome. Visit the group’s website or contact them to learn about the services they offer. 2nd Ed. 2003;3:589-96. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. The National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. Bloom syndrome is a genetic disorder associated with various congenital defects and predisposition to acute leukemia, pulmonary fibrosis, and Hodgkin lymphomas. German J, III. • Margaret P Adam; Holly H Ardinger; Roberta A Pagon; Stephanie E Wallace; et al., eds. The risk is the same for males and females. Skin lesions are another hallmark of BSyn. Bloom syndrome is a disorder characterized by poor growth, frequent infections, sun sensitivity and increased cancer risk at a young age. GeneReviews Sanz MM, German J. Bloom's Syndrome. Annual evaluation by a dermatologist is also advised. Throughout the main instability syndromes, stands out the Bloom’s syndrome, a rare autosomal recessive chromosomal instability disorder whose main clinical manifestations are growth deficiency, telangiectasic facial erythema, photosensibility, immunodeficiency, and increased risk to develop neoplasms at an early age. Treatment of diabetes mellitus in BSyn is the same as in other persons. Bloom Syndrome. Hennekam RCM, Krantz ID, Allanson JE, eds. To search for patient organizations and other pages related to this topic, use the Advanced Search function at the top right corner of the page. (For more information on this disorder choose “Cockayne syndrome” as your search term in the Rare Disease Database.). The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. 2002;509:49-78. Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome.. Diagnosis typically involves identification of the characteristic clinical features and/or molecular testing to identify changes to the BLM gene. Seattle (WA): University of Washington, Seattle 2. The HPO collects information on symptoms that have been described in medical resources. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Bloom Syndrome. Bloom syndrome is rare, with about 283 cases reported to the Bloom Syndrome Registry. Bloom syndrome is a very rare autosomal recessive genetic disease that stems from mutations in genes responsible for DNA repair. The risk for two carrier parents to both pass down the disease-causing gene and therefore to have an affected child is 25% with each pregnancy. J Biol Chem. Bloom's Syndrome Association INTERNET Bajoghli A. Bloom Syndrome (Congenital Telangiectatic Erythema).Medscape. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some people with Bloom syndrome have learning disabilities, type 2 diabetes, and chronic obstructive pulmonary disease (COPD). GeneReviews: Bloom's Syndrome GeneReviews • Skin lesions. Still, there are cases that reveal the disorder can also be in a recessive form, in which the offspring requires two affected genes to acquire Larsen syndrome. McGraw Hill Companies. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. Online directories are provided by the. From GeneReviews Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The risk for tumors is not increased in persons with Werner syndrome. European Society for Immunodeficiencies (ESID) Registry. These disorders involve genes (RMI1, RMI2, and TOP3A) that code for proteins that interact with the BLM protein to repair DNA. High frequency of a common Bloom syndrome Ashkenazi mutation … Reports on Bloom syndrome and related disorders from GeneReviews ®: ; Bloom Syndrome. Am J Hum Genet. Copyright ©2021 NORD - National Organization for Rare Disorders, Inc. All rights reserved. This disorder occurs due to the inhibited function of a protein necessary for maintaining the integrity of the genome, leading … The Genetics of Bloom Syndrome. We want to hear from you. Despite its putative tumor suppressor function, the contribution of BLM to human sporadic colorectal cancer … 2003;22:8749-57. 1996 Jul 1. In: GeneReviews [Internet], Adam MP, Ardinger HH, Pagon RA, et al (Eds), University of Washington, Seattle 2019. Excerpt. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright. J Biol Chem. Cells with specific locus mutations have been reported to be present in abnormally great numbers in BS fibroblast cultures, e.g., 6-thioguanine-resistant and diphtheria toxin-resistant cells. Conditions with similar signs and symptoms from Orphanet. All proceeds from the 2017 campaign will go to Bloom Syndrome Association in support of its mission. Oshima J, Martin GM, Hisama FM. Shahrabani-Gargir L, Shomrat R, Yaron Y, et al. For those with defects in humoral immunity, weekly subcutaneous or monthly intravenous infusions of gamma globulin may be beneficial. School performance should be assessed regularly, and parents should be aware of educational support available. Bloom Syndrome. Mutations in this gene cause errors in the copying process during DNA replication and result in a higher number of chromosome breakages and rearrangements/sister chromatid exchanges. 2002;62:2766-70. RECQ-mediated genome instability 1, RECQ-mediated genome instability 2, Microcephaly, growth restriction, & increased sister-chromatid exchange 2. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. In GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. In Bloom's syndrome, rates are 10-100 times higher than in the normal population (9). 2002;115:125-29. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy. Have a question? Bloom syndrome is caused by mutations in the BLM gene which encodes the DNA helicase RecQl3 and is involved in the maintenance of genomic integrity. When this helicase is defective, as is the case in BSyn, a cell cannot detect and repair errors as effectively. This information comes from a database called the Human Phenotype Ontology Physicians must be conscientious in watching for indications of cancer, especially with patients who reach adulthood. (For more information on these disorders choose “Fanconi,” “ataxia telangiectasia,” and “xeroderma pigmentosum” as your search terms in the Rare Disease Database. [ 2, 3, 4, 5] (see the image below). GeneReviews. Werner syndrome is a rare progressive disorder that is characterized by early onset of features associated with aging as well as increased risk of cancer. BS is caused by mutations in the BLM gene leading to mutated DNA helicase protein formation. Female infertility is also common because menstruation ceases at an abnormally early age among women with Bloom syndrome. Meetei AR, Sechi S, Wallisch M, et al. Fanconi Anemia. A more severe form of Cockayne syndrome (CS type II) is apparent at birth (congenital) or in the early newborn period. As a result, those affected can experience recurrent infections, primarily ear infections and respiratory infections. Bloom Syndrome. Gastroesophageal reflux is common and may contribute to feeding issues. Bloom syndrome is inherited as an autosomal recessive trait, which means that both sexes are affected. The skin at birth and during early infancy appears normal. Diaz A, Vogiatzi MG, Sanz MM, German J. 5th ed. These disorders cause defects in the recognition and/or repair of damage to DNA inflicted by different agents. German J, Ellis NA. However, Individuals with Cockayne syndrome are more likely to experience hearing and vision loss than people with BSyn, and do not demonstrate an increased incidence of cancer. Persons with Nijmegen breakage syndrome and BSyn both present with small stature, evidence of excessive genomic instability, increased immunodeficiency, greater size and frequency of café-au-lait spots, and a predisposition to lymphoid cancers. 2018;103:221–231. Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. RA Pagon, MP Adam, TD Bird, CR Dolan, CT Fong, K Stephens. However, a decline in intellectual performance is common in Nijmegen breakage syndrome, but absent in BSyn; additionally, persons with Nijmegen breakage syndrome demonstrate skin abnormalities like small, dilated blood vessels that are common in BSyn. Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. Bloom's Syndrome. 2002;520:15-. Because infertility is a common issue, men with BSyn can undergo semen analysis to assess for abnormalities in the quantity and motility of sperm (azoospermia, oligospermia, or asthenospermia). The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for Bloom syndrome patients and the community of those affected by Bloom syndrome (including families). Langland G, Elliott J, Li Y, et al. Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. Do you know of an organization? Am J Med Genet Part A. BLOOM : Sister chromatid exchange analysis is appropriate in individuals with clinical features suggestive of Bloom syndrome. 2003;23:3417-26. Carcinoma also is commonly seen in these patients. Contact a GARD Information Specialist. GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Bloom's Syndrome. In Bloom's syndrome, rates are 10-100 times higher than in the normal population (9). We want to hear from you. We want to hear from you. Bloom syndrome (often abbreviated as BS in literature) [1] is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. NORD is a registered 501(c)(3) charity organization. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. Until additional information is available regarding treatment of problematic feeding behaviors and gastrointestinal symptoms, standard treatment for these concerns is recommended. Symptoms include short stature, sun-sensitive skin rash, and an immune system that doesn't work correctly. The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Straughen J, Ciocci S, Ye TZ, et al. 2002;277:30515-23. The cell may die, or in some cases the damaged cells may continue to grow in an abnormal fashion and result in cancer. Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an … NORD gratefully acknowledges Chris Cunniff, MD, Director of the Bloom Syndrome Registry, and Maeve Flanagan, BA, Research Assistant at the Bloom Syndrome Registry, for assistance in the preparation of this report. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. Do you have more information about symptoms of this disease? The characteristic feature in the cells of a Bloom syndrome patient is a high level of sister chromatid exchanges. You may want to review these resources with a medical professional. is updated regularly. Women with BSyn should be aware of signs of early menopause and may also consider oocyte (egg) freezing (cryopreservation). 1998;2:293-6. Bloom syndrome (BS) is a rare autosomal recessive chromosomal instability disorder characterised by short stature; photosensitivity; facial telangiectasia; immune deficiency; and a markedly increased susceptibility to cancer of any organ, but especially to leukaemia and lymphoma. Bloom's syndrome is the only known condition in which SCEs increase under these circumstances (1). German, J.: Bloom’s syndrome. Bloom Syndrome. Two other conditions — Nijmegen breakage syndrome and Russell-Silver syndrome — share hallmark clinical features with BSyn. Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. https://www.ncbi.nlm.nih.gov/pubmed/30057030, Hudson DF, Amor DJ, Boys A, et al. Flanagan M, Cunniff CM. Feeding difficulties are commonly reported in newborns, infants, and young children with BSyn. This means that to be affected with Bloom syndrome, a person receives one mutated gene copy from his or her mother and one mutated gene copy from his or her father. Mohaghegh P. Hickson ID. Many people with BSyn may show signs of immune deficiency. This gene codes for BLM protein, which is a helicase involved in DNA repair. Because of an increased incidence of hypothyroidism among the BSyn population, serum TSH with reflex to T4 should be measured annually beginning at 10 years. The HPO Gen Test. As published in GeneReviews ... Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom syndrome. 2002;8:179-86. TEXTBOOKS Jones KL, Jones MC, del Campo M, eds. These chromosomal changes place affected individuals at a higher than average risk for certain cancers, especially leukemia. This growth deficiency begins before birth, and the affected fetus is typically smaller than normal for gestational age. (HPO). RA Pagon, MP Adam, TD Bird, CR Dolan, CT Fong, K Stephens. Entry No: 210900. This means that DNA damage during the course of a cell’s life is not found and repaired, so the cell cannot continue to function. It was first described in 1954 by David Bloom in a series of patients with telangiectatic erythema on the face and dwarfism. JOURNAL ARTICLES Cunniff C, Djavid AR, Carrubba S, et al. Bloom's syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Morimoto W, Kaneko H, Isogai K, et al. 2002-2012. You can help advance The differential diagnosis of Bloom syndrome includes Fanconi anemia, Silver-Russell syndrome, Rothmund-Thomson syndrome, ataxia-telangiectasia, and Nijmegen breakage syndrome. Chromosomal instability in B-lymphoblasotoid cell lines from Werner and Bloom syndrome patients. Chromosome breakage syndromes and cancer. Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Bloom syndrome is of special interest to geneticists because patients with this condition bear chromosomes that are highly unstable, so gene mutations are frequently encountered. Some registries collect contact information while others collect more detailed medical information. rare disease research! DNA repair is especially important for the development and maturation of the T and B cells. 7th ed. ed. 2003;3:169-78. Updated: Updated: Apr 15, 2019. https://emedicine.medscape.com/article/1110271-overview. There has been one confirmed case of paternity in men with BSyn. Related diseases are conditions that have similar signs and symptoms. Honma M, Tadokoro S, Sakamoto H, et al. ISSN 2372-0697. Horm Res 2006;66:111-117. Use of growth hormone has been approached cautiously in this population, because of concerns regarding an increased risk to develop tumors as a result of their treatment. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for Bloom syndrome patients and the community of those affected by Bloom syndrome (including families). Helicases help in DNA replication and repair by temporarily “unzipping” or “unwinding” the double helix of DNA so that it can be replicated. Fanconi Anemia. Please note that NORD provides this information for the benefit of the rare disease community. Helping you find trustworthy answers on "Bloom syndrome" | Latest evidence made easy If growth hormone is prescribed, the growth response and serum IGF-1 and IGFBP-3 levels should be closely monitored, and unless there is an increase in growth velocity while under treatment, it should be discontinued. Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. Information on Clinical Trials and Research Studies, COVID-19 Rapid Response Leadership Series, 5 Myths About Orphan Drugs and the Orphan Drug Act, 1986, 1987, 1990, 1994, 1996, 2004, 2007, 2011, 2014, 2016, 2020, https://rarediseases.org/for-patients-and-families/information-resources/news-patient-recruitment/, Genetic and Rare Diseases (GARD) Information Center, https://www.ncbi.nlm.nih.gov/pubmed/30055079, https://www.ncbi.nlm.nih.gov/pubmed/30057030, https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006483, https://emedicine.medscape.com/article/1110271-overview, https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225074542, https://www.ncbi.nlm.nih.gov/books/NBK1398/. J Photochem Photobiol B. GeneReviews® [Internet]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. While the facial appearance of people with BSyn is variable and may be undistinguishable from unaffected persons of similar age and size, infants and adults with Bloom syndrome usually present with a distinctively narrow head and face, but they have normal body proportions. BS; Bloom-Torre-Machacek syndrome; BLM; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability; BLS; Congenital Telangiectatic Erythema, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Human Phenotype Ontology Areas of abnormal brown or gray skin coloration (cafe-au-lait spots) may occur on other parts of the body. DNA repair is especially important for the development and maturation of the T and B cells. Bloom syndrome is a rare, inherited condition characterized by short stature, a skin rash that develops after sun exposure, infertility, and an increased risk of malignancy. The National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → … Background. Do you have updated information on this disease? 2002:267-288. REVIEW ARTICLES Charames GS, Bapat B. Genomic instability and cancer. Int J Mol Med. Solid tumors account for 66.3% of all cancers, compared to 33.6% being leukemia/lymphoma. Bloom's Syndrome (BSyn) is a rare autosomal recessive genetic disorder that is characterized by growth retardation that leads to short stature, sun‐sensitive skin changes limited to face and dorsa of hands and forearms, paucity of subcutaneous fat tissues throughout infancy and early childhood, and immunodeficiency that are associated with otitis media and pneumonia [1], [2], [4]. Biologist (London). As published in GeneReviews ... Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom syndrome. They may be able to refer you to someone they know through conferences or research efforts. Murphy GM. New York, NY. Seattle (WA): University of Washington, Seattle; 1993-2020. If you do not want your question posted, please let us know. Lippincott Williams & Wilkins. 2018]. Decreased proportion of CD4-positive T cells, Percent of people who have these symptoms is not available through HPO, Facial telangiectasia in butterfly midface distribution, To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Use the HPO ID to access more in-depth information about a symptom. A lipid profile to detect dyslipidemia is recommended annually beginning at 10 years; for those with dyslipidemia, dietary treatment according to standard protocols is recommended. Mol Cell Biol. However, SCE analysis alone is no longer sufficient to confirm a diagnosis of BSyn, because increased SCEs have since been observed in persons with two mutations on the RMI1, RMI2 and TOP3A genes (Hudson et al 2016, Martin et al 2018). Among Ashkenazi Jews living in Israel, all four of whose grandparents were from Poland, the relative carrier rate is 1 in 37 (Shahrabani-Gargir, et al 1998). 2006 Mar 22 [Updated 2013 Mar 28]. Rassool FV, North PS, Mufti GJ, et al. Trends Mol Med. Screening for colorectal cancer begins at 10-12 years, with an annual colonoscopy and fecal immunochemical testing (FIT) every 6 months. BSyn is inherited in an autosomal recessive pattern, meaning that it occurs when a person inherits two changed (mutated) copies of the BLM gene. all the symptoms listed. High frequency of a common Bloom syndrome Ashkenazi mutation … Our goal is to characterize Bloom syndrome natural history, maintain a database of clinical information, and The average birth weight of affected males is 1760 g (range 900-3189 g) and of affected females, 1754 g (range 700-2892 g). This may include consultation with a gastroenterologist or feeding specialist, use of high calorie diets, institution of reflux precautions and use of anti-reflux medications. The characteristic feature in the cells of a Bloom syndrome patient is a high level of sister chromatid exchanges. Curr Mol Med. In 6% of the patients, only one mutation was found for this recessive disease, indicating the second mutation was not detectable by DNA sequencing methods. The Registry comprises bona fide cases of individuals with this very rare disorder living in various parts of the world. We want to hear from you. And, although people with Rothmund-Thomson syndrome have a high risk to develop osteogenic sarcoma (a rare bone tumor) and a lower but still substantially increased risk for lymphoma, they do not develop the wide spectrum of tumors seen in persons with BSyn. eds. Bloom syndrome is caused by mutations in the BLM gene which encodes the DNA helicase RecQl3 and is involved in the maintenance of genomic integrity. GeneReviews; Bloom Syndrome: BLM, Jewish Genetic: Breast Cancer: 2012026: Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication: Additional Technical Information; If developmental delays are present, physical, occupational, and speech therapy can help. This disorder occurs due to the inhibited function of a protein necessary for maintaining the integrity of the genome, leading … Individuals with BSyn have usually tolerated doses at or below 50% of the standard chemotherapy dosage, with no clear evidence that this has resulted in poorer outcomes. Functional link between BLM defective in Bloom’s syndrome and the ataxia-telangiectasia-mutated protein, ATM. Male sterility is common because, for reasons that are not well understood, men with Bloom syndrome are unable to produce normal amounts of sperm. Online Mendelian Inheritance in Man (OMIM). Despite their very small head circumference, most affected individuals have normal intellectual ability. Vijayalaxmi et al. This section provides resources to help you learn about medical research and ways to get involved. Among solid tumors, colorectal cancer is most common at 29 cases to date, followed by skin cancer (25 cases), then breast and oropharyngeal cancers (24 cases each). Comparisons may be useful for a differential diagnosis: Previously, BSyn was thought to be the only syndrome that shows increased SCE. Alter B.P. 2018]. Among Ashkenazi Jews in either New York City or Israel, the carrier frequency for Bloom syndrome is about 1 in 100. Reports on Bloom syndrome and related disorders from GeneReviews ®: ; Bloom Syndrome. Beamish H, Kedar P, Kaneko H, et al. Seattle (WA): University of Washington. Larsen syndrome is an autosomal dominant congenital disorder, which means it only takes one defective copy of the gene for the disorder to be inherited.Just one parent with a mutated gene is enough to pass the same disorder to her child. 1954 Dec. 88(6):754-8.. Straughen J, Ciocci S, Ye TZ, et al. (For more information on this disorder, choose “Bloom” as your search term in the Rare Disease Database.)