MIRAGE syndrome

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Synonyms: Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome | Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

A rare genetic disease characterized by pre- and postnatal growth restriction developmental delay adrenal hypoplasia genital abnormalities (such as microphallus hypospadias or cryptorchidism) thrombocytopenia and/or anemia recurrent severe invasive infections and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures low-set and posteriorly rotated ears anteverted nares camptodactyly and arachnodactyly among others) may also be observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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