IMAGe syndrome
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.
MONDO:0005495
adrenal gland disorder
excluded_subClassOf
MONDO:0015129
chronic primary adrenal insufficiency
excluded_subClassOf
MONDO:0015620
obsolete syndromic urogenital tract malformation (obsolete MONDO:0015620)
excluded_subClassOf
MONDO:0019699
obsolete slender bone dysplasia (obsolete MONDO:0019699)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
IMAGe syndrome
exact
intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
related
intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
exact