Living with Majeed syndrome
A rare inherited condition with repeated fevers and inflammation that mostly affects bones, and can cause anemia.
Understanding Majeed syndrome
Signs usually begin in infancy or early childhood. A key feature is chronic recurrent multifocal osteomyelitis (CRMO), which causes bone pain and joint swelling. It can slow growth and cause joints that cannot fully straighten. People also have a type of anemia, and some develop a painful skin condition called Sweet syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fever
- Bone pain and joint pain
- Bone inflammation (osteomyelitis)
- Anemia (low red blood cells)
- Slow weight gain (failure to thrive)
- Enlarged liver and spleen
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists, blood and bone marrow specialists and bone and joint specialists.
- 3Consider genetic testing
Changes in LPIN2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CRMO Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LPIN2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis; chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome; chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis; mjds
Patient organizations
- CRMO FoundationMajeed syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Majeed syndrome.
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