Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition 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.[1]
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of bone marrow cell morphology | Very frequent (present in 80%-99% of cases) |
| Arthralgia | Very frequent (present in 80%-99% of cases) |
| Bone pain | Very frequent (present in 80%-99% of cases) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Chronic recurrent multifocal osteomyelitis | Very frequent (present in 80%-99% of cases) |
| Congenital hypoplastic anemia | Very frequent (present in 80%-99% of cases) |
| Fever | Very frequent (present in 80%-99% of cases) |
| Hypochromic microcytic anemia | Very frequent (present in 80%-99% of cases) |
| Metaphyseal irregularity | Very frequent (present in 80%-99% of cases) |
| Papule | Very frequent (present in 80%-99% of cases) |
| Pustule | Very frequent (present in 80%-99% of cases) |
| Acne | Frequent (present in 30%-79% of cases) |
| Edema | Frequent (present in 30%-79% of cases) |
| Failure to thrive | Frequent (present in 30%-79% of cases) |
| Headache | Frequent (present in 30%-79% of cases) |
| Hepatomegaly | Frequent (present in 30%-79% of cases) |
| Increased bone mineral density | Frequent (present in 30%-79% of cases) |
| Leukocytosis | Frequent (present in 30%-79% of cases) |
| Myalgia | Frequent (present in 30%-79% of cases) |
| Splenomegaly | Frequent (present in 30%-79% of cases) |
| Synovitis | Frequent (present in 30%-79% of cases) |
| Cough | Occasional (present in 5%-29% of cases) |
| Flexion contracture | Occasional (present in 5%-29% of cases) |
| Glomerulopathy | Occasional (present in 5%-29% of cases) |
| Increased |
Occasional (present in 5%-29% of cases) |
| Malabsorption | Occasional (present in 5%-29% of cases) |
| Microscopic hematuria | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pulmonary infiltrates | Occasional (present in 5%-29% of cases) |
| Episodic fever | Very rare (present in 1%-4% of cases) |
| Microcytic anemia | Very rare (present in 1%-4% of cases) |
| - | |
| Growth delay | - |
| Inflammatory abnormality of the skin | - |
| Osteomyelitis | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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