Clinical Guidance
MIRAGE syndrome is a rare disorder characterized by six core features: myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. To date, no consensus clinical diagnostic criteria for MIRAGE syndrome are available. In this review, a diagnosis of MIRAGE syndrome is defined as: • 46,XY individuals with four or more of the core features; or • 46,XX individuals with three or more of the core features. Using these diagnostic criteria, 44 individuals with features of MIRAGE syndrome and a pathogenic variant in SAMD9 have been identified to date [, , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with MIRAGE syndrome is based on these reports. Table 2. MIRAGE Syndrome: Frequency of Select Features
Feature | #ofPersonsw/Feature | Comment |
|---|
Myelodysplasia | 37/44 | Some assoc w/monosomy 7 or del(7q) |
Recurrent infection | 40/44 | — |
Restriction of growth | 43/44 | — |
Adrenal hypoplasia | 34/44 | — |
Atypical external genitalia in 46,XY individuals | 33/34 | Hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia |
Gastrointestinal complications | 36/44 | Myelodysplasia and bone marrow failure. Age of onset of hematologic abnormalities is variable. |
Source: GeneReviews — "MIRAGE Syndrome"
