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Bloom syndrome(BLM)

MedGen UID:
2685
Concept ID:
C0005859
Congenital Abnormality; Disease or Syndrome
Synonyms: BLM; Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: BS - Bloom syndrome (4434006); Bloom syndrome (4434006); Congenital telangiectatic erythema syndrome (4434006)
 
Gene (location): BLM (15q26.1)
OMIM®: 210900
Orphanet: ORPHA125

Disease characteristics

Excerpted from the GeneReview: Bloom’s Syndrome
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 erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn occurs rarely in all national and ethnic groups but is relatively less rare in Ashkenazi Jews. [from GeneReviews]
Authors:
Maureen M Sanz  |  James German  |  Christopher Cunniff   view full author information

Additional descriptions

From OMIM
Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.  http://www.omim.org/entry/210900
From GHR
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes.People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer.Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.  https://ghr.nlm.nih.gov/condition/bloom-syndrome

Clinical features

Diabetes mellitus type 2
MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. A blood test can show if you have diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.
Selective IgA deficiency
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.
IgG Deficiency
MedGen UID:
56446
Concept ID:
C0162539
Disease or Syndrome
A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.
IgM deficiency
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Selective IgA deficiency
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010). Genetic Heterogeneity of IgA Deficiency The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.
IgG Deficiency
MedGen UID:
56446
Concept ID:
C0162539
Disease or Syndrome
A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.
IgM deficiency
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Increased chromosomal breakage
MedGen UID:
347878
Concept ID:
C1859424
Finding
A type of chromosomal aberration reduced resistance of chromosomes to change or deterioration.
High pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
An abnormal increase in the pitch (frequency) of the voice.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Long narrow head
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Carcinoma, Squamous Cell
MedGen UID:
2874
Concept ID:
C0007137
Neoplastic Process
The presence of squamous cell carcinoma of the skin.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Fedhila-Ben Ayed F, Douira-Khomsi W, Rhayem S, Jelassi M, Zribi H, Chaabouni M, Khemiri M, Bellagha I, Barsaoui S
Arch Pediatr 2016 Apr;23(4):382-4. Epub 2016 Jan 7 doi: 10.1016/j.arcped.2015.12.004. PMID: 26774895
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H
J Eur Acad Dermatol Venereol 2014 Oct;28(10):1318-23. Epub 2013 Oct 1 doi: 10.1111/jdv.12279. PMID: 24118499
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. PMID: 23928670
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. PMID: 23443610

Diagnosis

Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L
Cutis 2016 Feb;97(2):E10-3. PMID: 26919505
Fedhila-Ben Ayed F, Douira-Khomsi W, Rhayem S, Jelassi M, Zribi H, Chaabouni M, Khemiri M, Bellagha I, Barsaoui S
Arch Pediatr 2016 Apr;23(4):382-4. Epub 2016 Jan 7 doi: 10.1016/j.arcped.2015.12.004. PMID: 26774895
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H
J Eur Acad Dermatol Venereol 2014 Oct;28(10):1318-23. Epub 2013 Oct 1 doi: 10.1111/jdv.12279. PMID: 24118499
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. PMID: 23928670

Therapy

Owen N, Hejna J, Rennie S, Mitchell A, Hanlon Newell A, Ziaie N, Moses RE, Olson SB
Cytogenet Genome Res 2014;144(4):255-63. Epub 2015 Feb 28 doi: 10.1159/000375247. PMID: 25766002Free PMC Article
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. PMID: 23928670
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. PMID: 23443610
Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B
Carcinogenesis 2006 Aug;27(8):1655-60. Epub 2006 Feb 25 doi: 10.1093/carcin/bgi374. PMID: 16501249
Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C
Genet Test 1998;2(4):293-6. doi: 10.1089/gte.1998.2.293. PMID: 10464606

Prognosis

Fedhila-Ben Ayed F, Douira-Khomsi W, Rhayem S, Jelassi M, Zribi H, Chaabouni M, Khemiri M, Bellagha I, Barsaoui S
Arch Pediatr 2016 Apr;23(4):382-4. Epub 2016 Jan 7 doi: 10.1016/j.arcped.2015.12.004. PMID: 26774895
Arora A, Abdel-Fatah TM, Agarwal D, Doherty R, Moseley PM, Aleskandarany MA, Green AR, Ball G, Alshareeda AT, Rakha EA, Chan SY, Ellis IO, Madhusudan S
Mol Cancer Ther 2015 Apr;14(4):1057-65. Epub 2015 Feb 11 doi: 10.1158/1535-7163.MCT-14-0939. PMID: 25673821
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. PMID: 23443610
Kaneko H, Kondo N
Expert Rev Mol Diagn 2004 May;4(3):393-401. doi: 10.1586/14737159.4.3.393. PMID: 15137905

Clinical prediction guides

Fedhila-Ben Ayed F, Douira-Khomsi W, Rhayem S, Jelassi M, Zribi H, Chaabouni M, Khemiri M, Bellagha I, Barsaoui S
Arch Pediatr 2016 Apr;23(4):382-4. Epub 2016 Jan 7 doi: 10.1016/j.arcped.2015.12.004. PMID: 26774895
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. PMID: 23928670
Hoadley KA, Xue Y, Ling C, Takata M, Wang W, Keck JL
Proc Natl Acad Sci U S A 2012 Mar 20;109(12):4437-42. Epub 2012 Mar 5 doi: 10.1073/pnas.1117279109. PMID: 22392978Free PMC Article
Kaneko H, Fukao T, Kasahara K, Yamada T, Kondo N
Mol Med Rep 2011 Jul-Aug;4(4):607-9. Epub 2011 May 3 doi: 10.3892/mmr.2011.484. PMID: 21567087
Horowitz DP, Topaloglu O, Zhang Y, Bunz F
Cancer Biol Ther 2008 Nov;7(11):1783-6. Epub 2008 Nov 4 PMID: 18787401Free PMC Article

Recent systematic reviews

Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T
Breast Cancer Res Treat 2013 Jan;137(2):533-9. Epub 2012 Dec 6 doi: 10.1007/s10549-012-2357-1. PMID: 23225144
Chernausek SD
J Endocrinol Invest 2006;29(1 Suppl):16-20. PMID: 16615302
ACOG Committee on Genetics.
Obstet Gynecol 2004 Aug;104(2):425-8. PMID: 15292027

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