MIRAGE syndrome

MIRAGE syndrome is a very rare genetic condition caused by changes in the SAMD9 gene. The name MIRAGE is an acronym that stands for the main features of the condition: Myelodysplasia (problems with blood cell production), Infection susceptibility (getting sick easily), Restriction of growth (very small size before and after birth), Adrenal hypoplasia (small or underdeveloped adrenal glands), Genital phenotypes (differences in genital development), and Enteropathy (digestive problems). Because the adrenal glands do not work properly, the body cannot make enough of certain hormones that are essential for life, especially during times of stress or illness. This makes adrenal crisis — a sudden, life-threatening drop in these hormones — one of the most serious risks for people with MIRAGE syndrome. Children with MIRAGE syndrome are typically very small at birth and continue to grow slowly. They often have a weakened immune system, making them prone to serious infections. Blood cell problems can range from low counts of certain blood cells to a condition called myelodysplastic syndrome, which affects how the bone marrow makes blood cells. Digestive issues such as poor feeding, diarrhea, and difficulty absorbing nutrients are also common. Some children may have differences in the development of their sex organs. There is currently no cure for MIRAGE syndrome. Treatment focuses on managing each symptom as it appears. Hormone replacement therapy for adrenal insufficiency is critical and can be life-saving. Infections are treated promptly, and nutritional support is often needed. Because this condition affects so many body systems, a team of specialists is usually involved in care. The long-term outlook varies widely, and some children have severe complications early in life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What signs of adrenal crisis should I watch for, and exactly what should I do if one happens?,How often does my child need blood tests to monitor their blood cell counts and hormone levels?,Should my child carry a medical alert card or wear a medical ID bracelet?,What infections are most dangerous for my child, and are there any preventive treatments like immunoglobulin therapy?,Is bone marrow transplant something we should consider, and when would that decision be made?,Are there any clinical trials or research studies my child might be eligible for?,What specialists should be part of my child's care team, and how often should we see each one?

Common questions about MIRAGE syndrome

Related conditions

Other rare diseases commonly researched alongside MIRAGE syndrome.

• Familial glucocorticoid deficiency→
• IMAGe syndrome→