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MIRAGE syndrome is a condition characterized by Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (intestinal problems). It was originally described in 11 patients who had growth restriction, intellectual disability, developmental delay, adrenal insufficiency resulting in skin hyperpigmentation, symptoms of salt loss, poorly developed and abnormal genitalia (small penis, absence of one or both testes from the scrotum (cryptorchidism) and the urethral opening in the underside of the penis (hypospadias). All patients had low platelet numbers (thrombocytopenia) and/or anemia. MIRAGE syndrome is caused by a change (mutation) in the SAMD9 gene. In the cases described there was no description of a specific treatment but the symptoms should be managed based on presentation.
Source: GARD Last updated on 05-01-20
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