Majeed syndrome

Title

Other Names:

Chronic recurrent multifocal osteomyelitis, congenital; Dyserythropoietic anemia, and neutrophilic dermatosis; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; Chronic recurrent multifocal osteomyelitis, congenital; Dyserythropoietic anemia, and neutrophilic dermatosis; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; CDA and CRMO See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases; Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases; Musculoskeletal Diseases; Skin Diseases See More

Summary Summary

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. The two main features of this condition are chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). CRMO causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.^[1]

Last updated: 10/31/2013

Symptoms Symptoms

Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome:^[1]

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 dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. 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]

Last updated: 10/31/2013

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.

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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
Chronic recurrent multifocal osteomyelitis		0005901
Congenital hypoplastic anemia		0004810
Fever		0001945
Hypochromic microcytic anemia		0004840
Metaphyseal irregularity	Irregular wide portion of a long bone	0003025
Papule		0200034
Pustule	Pimple	0200039
30%-79% of people have these symptoms
Acne		0001061
Edema	Fluid retention Water retention [ more ]	0000969
Failure to thrive	Faltering weight Weight faltering [ 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		0001371
Glomerulopathy		0100820
Increased susceptibility to fractures	Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ]	0002659
Malabsorption	Intestinal malabsorption	0002024
Microscopic hematuria		0002907
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Pulmonary infiltrates	Lung infiltrates	0002113
1%-4% of people have these symptoms
Episodic fever	Increased body temperature, episodic Intermittent fever [ more ]	0001954
Microcytic anemia		0001935
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Inflammatory abnormality of the skin	Skin inflammation	0011123
Osteomyelitis	Bone infection	0002754

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Cause Cause

Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.^[1]

Last updated: 10/31/2013

Inheritance Inheritance

Majeed syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.^[1]

Last updated: 10/31/2013

Diagnosis 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 Treatment

Treatment is based upon the symptoms present. Chronic recurrent multifocal osteomyelitis (CRMO) is treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy to avoid disuse atrophy of muscles and contractures. If CRMO does not respond to NSAIDs, corticosteroids can be used short term to control CRMO and skin manifestations. Resolution of bone inflammation has been reported in at least two children who were treated with an IL-1 inhibitor. Congenital dyserythropoietic anemia (CDA) may be treated with red blood cell transfusion.^[2]

Last updated: 10/31/2013

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. 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.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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

Autoinflammatory Alliance
P.O. Box 590354
San Francisco, CA 94118
Telephone: 415-831-8782
E-mail: karen@autoinflammatory.org
Website: http://www.autoinflammatory.org/
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: info@fmfandaid.org
Website: https://www.fmfandaid.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

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News

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April 11, 2018

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References References

Majeed syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/majeed-syndrome. Accessed 10/31/2013.
El-Shanti H, Ferguson P. Majeed Syndrome. GeneReviews. March 14, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1974/. Accessed 10/31/2013.

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