Preferred Label : IMAGe syndrome;
ICD-11 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.;
ICD-11 synonym : Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita
- genital anomalies;
Origin ID : 1064803315;
Currated CISMeF NLP mapping
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.
