IMAGe syndrome
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 March 2024
Newly diagnosed with
IMAGe syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Adrenal Insufficiency United
Helping find resources and navigating the health system
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.