Majeed syndrome
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Genetics
- autosomal recessive
- associated with defects in LPIN2
Clinical manifestations
- chronic recurrent multifocal osteomyelitis with early onset & lifelong course
- congenital dyserythropoietic anemia presenting as hypochromic, microcytic anemia during the first year of life, ranging from mild to transfusion-dependent
- transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration)