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Disease Profile
Majeed 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.
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Age of onset
Infancy
ICD-10
-
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)
Chronic recurrent multifocal osteomyelitis, congenital; Dyserythropoietic anemia, and neutrophilic dermatosis; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis;
Categories
Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases;
Summary
Majeed
Symptoms
- Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called
contractures , which restrict the movement of certain joints. Congenital dyserythropoieticanemia is ablood disorder which involve a shortage ofred blood cells . Without enough of thesecells , the blood cannot carry an adequate supply of oxygen to the body'stissues . The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.
Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.[1]
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 | ||
Abnormality of bone marrow cell morphology | 0005561 | |
Arthralgia |
Joint pain
|
0002829 |
Bone pain | 0002653 | |
Cachexia |
Wasting syndrome
|
0004326 |
Congenital hypoplastic anemia | 0004810 | |
Fever | 0001945 | |
Hypochromic microcytic anemia | 0004840 | |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Osteomyelitis |
Bone infection
|
0002754 |
Papule | 0200034 | |
Pustule |
Pimple
|
0200039 |
30%-79% of people have these symptoms | ||
Acne | 0001061 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Failure to thrive |
Weight faltering
Faltering weight
[ more ] |
0001508 |
Headache |
Headaches
|
0002315 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Splenomegaly |
Increased spleen size
|
0001744 |
Synovitis | 0100769 | |
5%-29% of people have these symptoms | ||
Cough |
Coughing
|
0012735 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Glomerulopathy | 0100820 | |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Microscopic hematuria |
Small amount of blood in urine
|
0002907 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Pulmonary infiltrates |
Lung infiltrates
|
0002113 |
1%-4% of people have these symptoms | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Elevated erythrocyte sedimentation rate |
High ESR
|
0003565 |
Erythroid hyperplasia | 0012132 | |
Enlarged liver and spleen
|
0001433 | |
Joint swelling | 0001386 | |
Microcytic anemia | 0001935 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Skin rash | 0000988 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Decreased mean corpuscular volume | 0025066 |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
Related diseases
Related 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.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Caffey disease, SAPHO syndrome, non-syndromic CRMO, deficiency of the interleukin-1 receptor antagonist (DIRA) and immune deficiency.
Visit the Orphanet disease page for more information.
|
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
-
CRMO Foundation
2827 Sunset View Drive
Fort Collins, CO 80528
E-mail: https://crmofoundation.org/contact-us/
Website: https://crmofoundation.org/ -
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: [email protected]
Website: https://www.fmfandaid.org/
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
- Genetics Home Reference (GHR) contains information on Majeed syndrome. This website is maintained by the National Library of Medicine.
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.
- 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 Majeed syndrome. Click on the link to view a sample search on this topic.
References
- Majeed syndrome. Genetics Home Reference (GHR). August 2009; https://ghr.nlm.nih.gov/condition/majeed-syndrome. Accessed 10/31/2013.
- El-Shanti H, Ferguson P. Majeed Syndrome. GeneReviews. March 14, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1974/. Accessed 10/31/2013.
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