IMAGe syndrome

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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 Data version May 2024

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IMAGe syndrome?

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