Majeed syndrome

info · Immune

An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11.

Signs and symptoms

Elevated erythrocyte sedimentation rate
Joint swelling
Bone pain
Delayed skeletal maturation
Erythroid hyperplasia
Arthralgia
Failure to thrive
Recurrent fever
Microcytic anemia
Hepatosplenomegaly

Also known as: chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome