Majeed syndrome

Reviewed August 2009

What is Majeed syndrome?

Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin.

One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood. These symptoms persist into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.

Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of 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.

Read more about congenital dyserythropoietic anemia.

How common is Majeed syndrome?

Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.

What genes are related to Majeed syndrome?

Majeed syndrome results from 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 (lipid metabolism). However, no lipid abnormalities have been found with Majeed syndrome. Lipin-2 also may be involved in controlling inflammation and 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.

Related Gene(s)

Changes in this gene are associated with Majeed syndrome.

LPIN2

How do people inherit Majeed syndrome?

This condition 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.

Where can I find information about diagnosis or management of Majeed syndrome?

These resources address the diagnosis or management of Majeed syndrome and may include treatment providers.

Gene Review: Majeed Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=majeed)
Gene Tests: Majeed Syndrome (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/301310)
MedlinePlus Encyclopedia: Osteomyelitis (http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm)
MedlinePlus Encyclopedia: Psoriasis (http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm)

You might also find information on the diagnosis or management of Majeed syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/majeed-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/majeed-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook.

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Majeed syndrome?

You may find the following resources about Majeed syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information
- Encyclopedia: Osteomyelitis (http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm)
- Encyclopedia: Psoriasis (http://www.nlm.nih.gov/medlineplus/ency/article/000434.htm)
- Health Topic: Anemia (http://www.nlm.nih.gov/medlineplus/anemia.html)
- Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
- Health Topic: Skin Conditions (http://www.nlm.nih.gov/medlineplus/skinconditions.html)
Additional NIH Resources - National Institutes of Health
National Heart, Lung, and Blood Institute: Anemia (http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/)
Educational resources - Information pages
- Bonetumor.org: Chronic Recurrent Multifocal Osteomyelitis (http://www.bonetumor.org/tumors-unknown-type/chronic-recurrent-multifocal-osteomyelitis-crmo)
- Cleveland Clinic: Anemia (http://my.clevelandclinic.org/disorders/Anemia/hic_Anemia.aspx)
- Madisons Foundation: Sweet Syndrome (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=349)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77297)
Patient support - For patients and families
- National Anemia Action Council (http://www.anemia.org/)
- National Organization for Rare Disorders (NORD): Osteomyelitis (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/742/viewAbstract)
- National Organization for Rare Disorders (NORD): Sweet Syndrome (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/424/viewAbstract)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=majeed)
Gene Tests - Genetic tests ordered by healthcare professionals (http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/301310)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(majeed%20syndrome%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/609628)

What other names do people use for Majeed syndrome?

chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Majeed syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Majeed syndrome?

anemia ; autosomal ; autosomal recessive ; blister ; carrier ; cell ; cell division ; chronic ; complication ; congenital ; contracture ; fever ; gene ; inflammation ; joint ; lipid ; metabolism ; mutation ; osteomyelitis ; oxygen ; protein ; psoriasis ; recessive ; red blood cell ; sign ; Sweet syndrome ; symptom ; syndrome ; tissue ; transient

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum. 2007 Mar;56(3):960-4. (http://www.ncbi.nlm.nih.gov/pubmed/17330256?dopt=Abstract)
El-Shanti HI, Ferguson PJ. Chronic recurrent multifocal osteomyelitis: a concise review and genetic update. Clin Orthop Relat Res. 2007 Sep;462:11-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17496555?dopt=Abstract)
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005 Jul;42(7):551-7. (http://www.ncbi.nlm.nih.gov/pubmed/15994876?dopt=Abstract)
Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Rheumatol. 2007 Sep;19(5):492-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17762617?dopt=Abstract)
Gene Review: Majeed Syndrome (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=majeed)
Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr. 2001 Dec;160(12):705-10. (http://www.ncbi.nlm.nih.gov/pubmed/11795677?dopt=Abstract)
Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F, Majeed SA, al-Gazzar AH. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr. 1989 Nov;115(5 Pt 1):730-4. (http://www.ncbi.nlm.nih.gov/pubmed/2809904?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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