SNP Shot: Genomic Insights

Majeed syndrome is an uncommon disorder distinguished by recurring fevers and inflammation affecting both the bones and skin.

A primary characteristic of Majeed syndrome is chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone disease. CRMO manifests as repeated episodes of pain and swelling in the joints, typically starting in infancy or early childhood. While periods of improvement may occur, these symptoms often continue into adulthood. Potential complications of CRMO include stunted growth and joint contractures, which limit joint mobility.

Another hallmark of Majeed syndrome is congenital dyserythropoietic anemia, a type of blood disorder characterized by a deficiency in red blood cells. This shortage impairs the blood's ability to transport sufficient oxygen to the body's tissues. Consequently, individuals may experience fatigue, weakness, pale skin, and breathlessness. The severity of congenital dyserythropoietic anemia can vary greatly.

Inflammatory skin problems, particularly Sweet syndrome, are common in individuals with Majeed syndrome. Sweet syndrome is characterized by fever and the appearance of painful bumps or blisters on the face, neck, back, and arms.

Inheritance:

Majeed syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must be mutated for the condition to develop. Individuals with autosomal recessive conditions inherit one mutated copy of the gene from each parent, who are considered carriers. While carriers usually do not exhibit signs of Majeed syndrome, some parents of affected children have experienced psoriasis, an inflammatory skin condition.