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 June 2026
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Advocacy Organizations
Adrenal Insufficiency united
Helping find resources and navigating the health system
Global Adrenal Testing Consortium
The Global Adrenal Testing Consortium is a patient-led nonprofit transforming adrenal health through open, collaborative research. We unite patients, clinicians, and researchers to redefine cortisol testing—prioritizing accuracy, accessibility, and community-driven innovation. By setting transparent standards, advocating for FDA approval, and ensuring global access, we empower the adrenal insuffic
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.