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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 85173
IMAGe syndrome is characterized by the association of I ntrauterine growth retardation, M etaphyseal dysplasia (and short limbs), A drenal hypoplasia congenita, and Ge nital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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