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Majeed syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Majeed Syndrome

Majeed syndrome is a rare genetic disorder characterized by chronic, painful bone inflammation, a shortage of oxygen-carrying red blood cells, and inflammatory skin conditions.

Overview

Majeed syndrome is a rare condition that is characterized by recurrent episodes of fever and inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, Majeed syndrome causes abnormal inflammation that can damage the body's tissues, particularly the bones and, less commonly, the skin. The signs and symptoms of Majeed syndrome typically appear in infancy or early childhood and can vary from person to person.

Symptoms & Clinical Features

One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of bone pain and joint swelling. These symptoms continue into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.

Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. This can cause tiredness (fatigue), weakness, pale skin, and shortness of breath. The complications of congenital dyserythropoietic anemia can range from mild to severe.

Some people with Majeed syndrome develop an inflammatory disorder of the skin known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.

Frequency

Majeed syndrome is rare; approximately 30 individuals with this condition have been reported in the literature.

Causes & Genetics

Variants (also called mutations) in the LPIN2 gene cause Majeed syndrome. This gene provides instructions for making a protein called lipin-2. Lipin-2 helps regulate the inflammatory response, the first step in the immune system's response to injury. Lipin-2 is also thought to play a role in bone remodeling, the process by which old bone is removed and replaced by new bone.

Variants in the LPIN2 gene alter the structure and function of lipin-2. Research into how these gene variants cause the specific signs and symptoms of Majeed syndrome is still ongoing. Changes in the lipin-2 protein cause people with Majeed syndrome to produce more molecules that promote inflammation. In addition, individuals with Majeed syndrome produce more osteoclasts, which are cells that break down bone tissue. In people with Majeed syndrome, the overly active immune response leads to chronic inflammation and fevers, while the increased production of osteoclasts leads to excessive bone inflammation and remodeling.

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis
  • Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
  • CRM01
  • MJDS

Frequently Asked Questions

Management is individualized: mild anemia may be treated with iron supplementation and folic acid, while moderate‑to‑severe cases often require regular red‑cell transfusions. In refractory cases, a trial of interferon‑γ or hematopoietic stem‑cell transplantation has been reported, but these are reserved for life‑threatening anemia. Monitoring includes quarterly complete blood counts and growth assessments.
Sweet syndrome lesions are typically painful, erythematous papules or plaques that appear suddenly, often accompanied by fever. They are tender, may have a “pseudo‑vesicular” appearance, and biopsy shows dense neutrophilic infiltrate without organisms. If lesions are rapidly progressive, painful, and associated with fever, a dermatology consult for biopsy is warranted to differentiate from cellulitis or abscess.
CRMO typically presents with multiple bone sites, low‑grade fevers, and normal or only mildly elevated inflammatory markers, whereas bacterial osteomyelitis often involves a single acute painful site, high fevers, and markedly raised white‑blood‑cell count. Imaging (MRI) shows symmetric bone marrow edema without abscess formation in CRMO, and a bone biopsy that lacks bacteria on culture confirms the diagnosis.
First‑line therapy includes non‑steroidal anti‑inflammatory drugs (NSAIDs) and colchicine. If pain persists, disease‑modifying agents such as bisphosphonates (e.g., pamidronate) or TNF‑α inhibitors (e.g., etanercept) are used. Physical therapy focused on gentle range‑of‑motion exercises is essential to maintain joint flexibility and avoid contractures.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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