Majeed syndrome

Disease Overview

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.[7003]

Synonyms

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