Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

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OMIM 57 614732 Disease Ontology 12 DOID:0050885 Orphanet 59 ORPHA85173 ICD10 via Orphanet 34 Q87.1 UMLS via Orphanet 74 C1846009

MedGen 42 C1846009 MeSH 44 D000309 D001848 D005317 SNOMED-CT via HPO 69 263681008 204878001 204888000 34911001 43064006 48130008 95515009 2109003 237774001 398151007 398152000 224958001 199612005 22033007 90145001 71938000 254080004 123983008 74370006 166702002 66931009 249310005 27837003 more UMLS 73 C1846009 C0015934 C0265294

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85173Disease definitionIMAGe 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 recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, also known as image syndrome, is related to pyle disease and spondylo-megaepiphyseal-metaphyseal dysplasia. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include bone, and related phenotypes are low-set ears and frontal bossing

OMIM : ⁵⁷ IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis (summary by Balasubramanian et al., 2010). (614732)

UniProtKB/Swiss-Prot : ⁷⁵ Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.

Disease Ontology : ¹² A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has physical basis in heterozygous mutation in the CDKN1C gene.

GeneReviews: NBK190103

Clinical features from OMIM:

614732

Search Clinical Trials , NIH Clinical Center for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Search GEO for disease gene expression data for Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies.