What is Majeed syndrome?
Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO).
How many people have Majeed syndrome?
The disease is very rare and described only families of Middle East origin (Jordan, Turkey). The actual prevalence is estimated at less than 1/1,000,000 children. 1.3 What are the causes of the disease? The disease is caused by mutations in the LPIN2 gene on chromosome 18p that codes for a protein called lipin-2.
Is Crmo genetic?
Summary: CRMO occurs in humans, nonhuman primates, dogs and mice. There is a genetic component to disease but the genetic basis has only been identified for a small percentage of all cases.
What causes Majeed syndrome?
Majeed syndrome is caused by mutations in the LPIN2 gene . This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division.
Is CRMO life threatening?
CRMO/CNO is a rare and serious disease. It involves inflammation of one or more bones and can be chronic. Symptoms can come and go. CRMO/CNO is treated by rheumatologists.
Does CRMO ever go away?
There is no cure for CRMO. The goal of treatment at Columbia’s Pediatric Rheumatology Program is to reduce pain, prevent bone growths and deformities, and help your child lead a normal, productive life.
What triggers CRMO?
The exact cause of chronic recurrent multifocal osteomyelitis (CRMO) is unknown. It is thought that genetics may play a role. In rare cases, CRMO can occur as part of Majeed syndrome, DIRA, or PAPA syndrome. All of these conditions occur due to a genetic variant in a single gene .
Is CRMO autoimmune?
CRMO—also called chronic nonbacterial osteomyelitis (CNO)—is a rare disorder that causes inflammation of the bone. CRMO is an autoimmune disease, in which the immune system mistakenly attacks healthy tissue and organs, causing inflammation.
What disease eats away at your bones?
Gorham-Stout disease (GSD), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) and the overgrowth (proliferation) of lymphatic vessels.
What was the phantom killer disease?
| Tuberculosis | |
|---|---|
| Specialty | Infectious disease, pulmonology |
| Symptoms | Chronic cough, fever, cough with bloody mucus, weight loss |
| Causes | Mycobacterium tuberculosis |
| Risk factors | Smoking, HIV/AIDS |
What kind of bone disease is Majeed syndrome?
Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO).
How is Majeed syndrome related to Sweet syndrome?
CDA involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from mutations in the LPIN2 gene.
What are the side effects of Majeed syndrome?
The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome.
Which is mode of inheritance observed in Majeed syndrome?
Majeed syndrome(MJDS) Autosomal recessive inheritance. Sources: HPO, OMIM, Orphanet. A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes.