/IMAGe syndrome

IMAGe syndrome

Rare Disease

MONDO:0013873

Also Known As

IMAGe syndromeintrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalitiesintrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndromeintrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomaliesintrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

Definition

IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital 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.