From OMIMMajeed syndrome (MJDS) is an autosomal recessive pediatric multisystem autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia; some patients may also develop neutrophilic dermatosis. Additional features may include fever, failure to thrive, and neutropenia. Laboratory studies show elevated inflammatory markers consistent with activation of the proinflammatory IL1 (147760) pathway (summary by Ferguson and El-Shanti, 2021).
Genetic Heterogeneity of Chronic Recurrent Multifocal Osteomyelitis
See also CRMO2 (612852), caused by mutation in the IL1RN gene (147679) on chromosome 2q14; and CRMO3 (259680), caused by mutation in the IL1R1 gene (147810) on chromosome 2q12.
http://www.omim.org/entry/609628 From MedlinePlus GeneticsMajeed syndrome is a rare condition that is characterized by recurrent episodes of fever and inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, Majeed syndrome causes abnormal inflammation that can damage the body's tissues, particularly the bones and, less commonly, the skin. The signs and symptoms of Majeed syndrome typically appear in infancy or early childhood and can vary from person to person.
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 bone pain and joint swelling. These symptoms continue 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. This can cause tiredness (fatigue), weakness, pale skin, and shortness of breath. The complications of congenital dyserythropoietic anemia can range from mild to severe.
Some people with Majeed syndrome develop an inflammatory disorder of the skin 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.
https://medlineplus.gov/genetics/condition/majeed-syndrome