Search
Majeed syndrome
Genetics:
- autosomal recessive
- associated with defects in LPIN2
Clinical manifestations:
1) chronic recurrent multifocal osteomyelitis with early onset & lifelong course
2) congenital dyserythropoietic anemia presenting as hypochromic, microcytic anemia during the first year of life, ranging from mild to transfusion-dependent
3) transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 609628
References
UniProt :accession Q92539