Majeed syndrome
Majeed Syndrome
Majeed syndrome (pronounced: ma-jeed sin-drome) is a rare, autosomal recessive, genetic disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and inflammatory dermatosis.
Etymology
The syndrome is named after the Majeed family, in which the first cases were identified. It was first described in 1989 by Dr. H.A. Majeed and his colleagues.
Symptoms
The primary symptoms of Majeed syndrome include chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and inflammatory dermatosis. CRMO is a condition that causes inflammation and pain in the bones. CDA is a type of anemia that is present from birth and affects the body's ability to produce red blood cells. Inflammatory dermatosis is a skin condition characterized by rashes and skin inflammation.
Genetics
Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein that is involved in the body's inflammatory response. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Majeed syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing mutations in the LPIN2 gene.
Treatment
Treatment for Majeed syndrome is symptomatic and supportive. It may include medications to manage pain and inflammation, blood transfusions for anemia, and skin treatments for dermatosis.
Prognosis
The prognosis for individuals with Majeed syndrome varies. Some individuals may have mild symptoms and a normal lifespan, while others may experience severe symptoms and complications that can affect quality of life and lifespan.
See Also
External links
- Medical encyclopedia article on Majeed syndrome
- Wikipedia's article - Majeed syndrome
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