Synonyms: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
A rare genetic disease characterized by intrauterine growth restriction metaphyseal dysplasia congenital adrenal hypoplasia and genital anomalies (such as cryptorchidism posterior hypospadias and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age mild developmental delay macrocephaly mild facial dysmorphism (with frontal bossing wide nasal bridge and small low-set ears) epiphyseal dysplasia and hypercalcemia/hypercalciuria among others.
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 April 2026
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IMAGe syndrome?
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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
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.