Rare Nephrology News

Disease Profile

Bloom syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q82.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

BS; Bloom-Torre-Machacek syndrome; BLM;

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

Summary

Bloom syndrome affects many different body systems and is characterized by slow growth, sun sensitivity, and an increased risk of cancer. Symptoms include short stature, sun-sensitive skin rash, and an immune system that doesn't work correctly. Some people with Bloom syndrome have learning disabilities, type 2 diabetes, and chronic obstructive pulmonary disease (COPD). Most people with Bloom syndrome develop some type of cancer by age 40. Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with Bloom syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][3]

  • Slow growth before and after birth
  • Immune problems
  • Extreme sun sensitivity
  • Skin rash and lesions
  • Endocrine system abnormalities
  • Increased risk for cancer

Some people with Bloom syndrome have learning disabilities. They may develop thyroid problems, diabetes, and serious lung problems. Most will be shorter than average. Many people with Bloom syndrome will develop some type of cancer by age 40.[2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adipose tissue loss
Loss of fat tissue
0008887
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Severe postnatal growth retardation
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure

[ more ]

0008850
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
30%-79% of people have these symptoms
Abnormal proportion of CD8-positive T cells
0031393
Cafe-au-lait spot
0000957
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Decreased circulating IgA level
0002720
Decreased circulating IgG level
0004315
Decreased circulating total IgM
0002850
Decreased head circumference
0040195
Decreased proportion of CD4-positive T cells
0032218
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Hypopigmentation of the skin
Patchy lightened skin
0001010
Insulin resistance
Body fails to respond to insulin
0000855
Malar flattening
Zygomatic flattening
0000272
Male infertility
0003251
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Otitis media
Middle ear infection
0000388
Poor appetite
Decreased appetite
0004396
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure

[ more ]

0008209
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Skin rash
0000988
5%-29% of people have these symptoms
Abdominal obesity
Central obesity
0012743
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Abscess
0025615
Acute lymphoblastic leukemia
0006721
Acute myeloid leukemia
0004808
Azoospermia
Absent sperm in semen
0000027
Bronchitis
0012387
Cheilitis
Inflammation of the lips
0100825
Chronic pulmonary obstruction
0006510
Diabetes mellitus
0000819
Gastrostomy tube feeding in infancy
0011471
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Lymphoma
Cancer of lymphatic system
0002665
Malignant genitourinary tract tumor
0006758
Myelodysplasia
0002863
Neoplasm of the breast
Breast tumor
Tumours of the breast

[ more ]

0100013
Neoplasm of the colon
Colon tumor
0100273
Neoplasm of the skin
Skin tumors
Tumor of the skin

[ more ]

0008069
Oligospermia
Low sperm count
0000798
Paronychia
0001818
Patchy alopecia
Patchy baldness
0002232
Pneumonia
0002090
Poikiloderma
0001029
Recurrent gastroenteritis
0031123
Recurrent herpes
Susceptibility to herpesvirus
0005353
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Rhinitis
Nasal inflammation
0012384
Severe toxoplasmosis
0020105
Severe varicella zoster infection
0032170
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Telangiectasia
0001009
Tonsillitis
Inflammation of tonsils
0011110
Uveitis
0000554
1%-4% of people have these symptoms
Esophageal neoplasm
Esophageal tumor
0100751
Nephroblastoma
0002667

Cause

Bloom syndrome is caused by the BLM gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes, not at all.[1]

Diagnosis

Bloom syndrome is diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing. Sometimes, cytogenetic testing, a blood test to look at a person's chromosomes, is done to look for features characteristic of Bloom syndrome.[1] Because of the severe growth problems, Bloom syndrome is sometimes suspected before birth and can be diagnosed using prenatal testing.[1]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment for Bloom syndrome is focused on managing the symptoms. Because of extra sun-sensitivity, people with Bloom syndrome are advised to use sunscreen and wear protective clothing. In addition, standard cancer treatments need to be adjusted because of their sensitivity to DNA-damaging chemicals and ionizing radiation. Health supervision guidelines are available for people with Bloom syndrome.[1][4]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
        • Genetics Home Reference (GHR) contains information on Bloom syndrome. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Bloom syndrome. Click on the link to view a sample search on this topic.

            References

            1. Flanagan M, Cunniff CM. Bloom syndrome. GeneReviews. Updated Feb 14, 2019; https://www.ncbi.nlm.nih.gov/books/NBK1398.
            2. Hafsi W, Badri T, Rice AS. Bloom Syndrome (Congenital Telangiectatic Erythema). In: StatPearls. Treasure Island (FL). Updated July 4, 2020; https://pubmed.ncbi.nlm.nih.gov/28846287.
            3. Cunniff C, Bassetti JA, Ellis NA. Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Mol Syndromol. 2017; 8(1):4-23. https://pubmed.ncbi.nlm.nih.gov/28232778.
            4. Cunniff C, Djavid AR, Carrubba S, et al. Health supervision for people with Bloom syndrome. Am J Med Genet A.. 2018; 176(9):1872-1881. https://pubmed.ncbi.nlm.nih.gov/30055079.
            5. Oddoux C, Clayton CM, Nelson HR, Ostrer H. Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. Am J Hum Genet. 1999; 64(4):1241-1243. https://pubmed.ncbi.nlm.nih.gov/10090915.
            6. Bloom syndrome. Genetics Home Reference. Updated Apr, 2015; https://ghr.nlm.nih.gov/condition/bloom-syndrome.

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