has material basis in germline mutation in CDKN1C syndromic disease adrenal gland disorder IMAGe syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/12312/image-syndrome https://www.malacards.org/card/intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_and_genital_anomalies MEDGEN:337364 NCIT:C130988 Orphanet:85173 intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome UMLS:C1846009 MONDO:0013873 intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies OMIM:614732 NANDO:1200406 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. IMAGe syndrome icd11.foundation:1064803315 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies GARD:0012312 SCTID:702384004 ICD9:759.89 DOID:0050885 chronic primary adrenal insufficiency obsolete syndromic urogenital tract malformation obsolete slender bone dysplasia primordial dwarfism and slender bone disorder