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Majeed syndrome

Synonyms
CDA and CRMO; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 1, WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, WITH OR WITHOUT NEUTROPHILIC DERMATOSIS; Chronic recurrent multifocal osteomyelitis, congenital; Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; Dyserythropoietic anemia, and neutrophilic dermatosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: LPIN2-Related Majeed Syndrome
Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of LPIN2-related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Dhanya Lakshmi Narayanan
Kishore Sai Gogineni
Vaishnavi Ashok Badiger
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Available tests

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Clinical tests (40 available)

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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