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Majeed syndrome

Orpha number ORPHA77297
Synonym(s) Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS
  • C1864997
MeSH
  • C537839
MedDRA
  • 10072223
SNOMED CT -

Summary

Majeed Syndrome is characterized by chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anaemia (CDA) and inflammatory dermatosis. It has been described in children born to consanguineous parents from two unrelated Arab families. The CRMO associated with this syndrome can be differentiated from isolated CRMO by an earlier age at onset (in infancy), more frequent episodes, shorter and less frequent remissions, and the fact that it is probably life long, leading to retarded growth and/or joint contractures. CDA is characterized by peripheral and bone marrow microcytosis. It can be variable in severity ranging from a mild, unnoticeable anemia to a blood transfusion-dependent form. The inflammatory dermatosis is usually Sweet syndrome but can also be pustulosis. Majeed syndrome is transmitted as an autosomal recessive trait. Homozygous mutations in the LPIN2 on chromosome 18p are responsible for this syndrome. The diagnosis of CRMO is confirmed by radiological and technetium isotope bone scans. Bone marrow studies confirm the diagnosis of CDA. Peripheral blood films show hypochromia and microcytosis.


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Detailed information

Clinical genetics review
  • EN (2013)
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