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Disease Profile
Bloom syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
BS; Bloom-Torre-Machacek syndrome; BLM;
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Bloom
Symptoms
- 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 |
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 |
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 | |
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 | |
0000819 | ||
Gastrostomy tube feeding in infancy | 0011471 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Malignant genitourinary tract |
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 | |
Diagnosis Bloom
Testing Resources
Treatment Treatment for Bloom
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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