Majeed syndrome

What causes Majeed syndrome?

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.

Last updated on 05-01-20

How is Majeed syndrome inherited?

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.

Last updated on 05-01-20

How might Majeed syndrome be treated?

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.

Last updated on 05-01-20

Name: FMF & AID Global Association Schüracherstrasse 25a 8306 Brüttisellen
Phone: +41 76 415 4010 Email: Url:
Name: CRMO Foundation 2827 Sunset View Drive
Fort Collins, CO, 80528, United States
Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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