{"orpha":85173,"name":"IMAGe syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"],"definition":"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85173/","orphanet_url":"https://www.orpha.net/en/disease/detail/85173","names":{"fr":{"name":"Syndrome IMAGe","synonyms":["Syndrome de retard de croissance intra-utérin-dysplasie métaphysaire-hypoplasie congénitale des surrénales-anomalies génitales"],"definition":"Maladie génétique rare caractérisée par un retard de croissance intra-utérin, une dysplasie métaphysaire, une hypoplasie congénitale des surrénales et des anomalies génitales (cryptorchidie, hypospadias postérieur et micropénis). Peu après la naissance, les patients peuvent développer une insuffisance surrénale sévère. Les autres manifestations comprennent un retard de croissance post-natal et un retard de l'âge osseux, un léger retard de développement, une macrocéphalie, une légère dysmorphie faciale (saillie des bosses frontales, pont nasal large et petites oreilles d'implantation basse), une dysplasie épiphysaire et une hypercalcémie/hypercalciurie."},"de":{"name":"IMAGe-Syndrom","synonyms":["Intrauterine Wachstumsretardierung - metaphysäre Dysplasie - kongenitale Nebennierenhypoplasie - Genitalanomalien"],"definition":"Eine seltene genetische Erkrankung, die durch <u>i</u>ntrauterine Wachstumsverzögerung, <u>m</u>etaphysäre Dysplasie mit verkürzten Gliedmaßen, kongenitale <u>a</u>drenale Hypoplasie und <u>Ge</u>nitalanomalien (wie Kryptorchismus, posteriore Hypospadie und Mikropenis) gekennzeichnet ist. Die Betroffenen können kurz nach der Geburt eine schwere Nebenniereninsuffizienz aufweisen. Weitere Symptome sind postnatales Wachstumsversagen und verzögertes Knochenalter, leichte Entwicklungsverzögerung, Makrozephalie, leichte Gesichtsdysmorphien (mit Balkonstirn, breitem Nasenrücken und kleinen, tief angesetzten Ohren), Epiphysendysplasie und Hyperkalzämie/Hyperkalzurie."},"es":{"name":"Síndrome IMAGe","definition":"Es una enfermedad genética poco frecuente caracterizada por restricción del crecimiento intrauterino, displasia metafisaria, hipoplasia suprarrenal congénita y anomalías genitales (tales como criptorquidia, hipospadias posterior y micropene). Los pacientes pueden presentarse poco después del nacimiento con una grave insuficiencia suprarrenal. Otras manifestaciones adicionales incluyen retraso del crecimiento postnatal y de la edad ósea, leve retraso psicomotor, macrocefalia, dismorfia facial leve (con frente prominente, puente nasal ancho y orejas pequeñas de implantación baja), displasia epifisaria e hipercalcemia/hipercalciuria, entre otras."},"it":{"name":"Sindrome IMAGe","synonyms":["Ritardo della crescita intrauterino - displasia metafisaria - ipoplasia congenita dei surreni - anomalie dei genitali"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da ritardo della crescita prenatale, displasia metafisaria, ipoplasia surrenale congenita e anomalie genitali (criptorchidismo, ipospadia posteriore e micropene). La malattia può esordire immediatamente dopo la nascita con una grave insufficienza surrenale. Altri segni clinici sono il ritardo della crescita postnatale, il ritardo dell'età ossea, un lieve ritardo dello sviluppo, la macrocefalia, i dismorfismi facciali sfumati (fronte prominente, sella nasale larga e orecchie piccole a basso impianto), la displasia epifisaria e l'ipercalcemia/ipercalcuria."},"nl":{"name":"IMAGe-syndroom","synonyms":["Intra-uteriene groeiachterstand - metafysaire dysplasie - congenitale adrenale hypoplasie - genitale anomalieën-syndroom","Intra-uteriene groeiachterstand - metafysaire dysplasie - congenitale bijnierhypoplasie - genitale anomalieën-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door intra-uteriene groeirestrictie, metafysaire dysplasie, congenitale adrenale hypoplasie, en genitale anomalieën (zoals cryptorchisme, posterieure hypospadie, en micropenis). Patiënten vertonen kort na de geboorte mogelijke bijnierschorsinsufficiëntie. Bijkomende manifestaties zijn onder meer postnataal groeifalen en vertraagde botmaturatie, milde ontwikkelingsachterstand, macrocefalie, milde faciale dysmorfie (met boller voorhoofd, brede neusbrug, en kleine en laagstaande oren), epifysaire dysplasie, en hypercalciëmie/hypercalciurie."},"pt":{"name":"Síndrome IMAGe","synonyms":["Síndrome de atraso de crecimento-displasia metafisária-hipoplasia supra-renal congénita-anomalias genitais"]},"pl":{"name":"Zespół IMAGe","synonyms":["Wewnątrzmaciczne opóźnienie wzrostu - dysplazja przynasadowa - wrodzona hipoplazja nadnerczy- wady narządów płciowych"]},"cs":{"name":"IMAGe syndrom","synonyms":["Syndrom zahrnující intrauterinní růstovou retardaci, metafyzární dysplázii, vrozenou adrenální hypoplázii a anomálie genitálií"]},"uk":{"name":"Синдром IMAGE","synonyms":["Синдром внутрішньоутробної затримки росту - метафізарної дисплазії - вродженої гіпоплазії надниркових залоз - генітальних аномалій"],"definition":"A rare genetic disease characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (such as cryptorchidism, posterior hypospadias, and micropenis). Patients may present shortly after birth with severe adrenal insufficiency. Additional manifestations include postnatal growth failure and delayed bone age, mild developmental delay, macrocephaly, mild facial dysmorphism (with frontal bossing, wide nasal bridge, and small, low-set ears), epiphyseal dysplasia, and hypercalcemia/hypercalciuria, among others."},"zh":{"name":"IMAGe综合征","synonyms":["宫内发育迟缓-干骺端发育不良-先天性肾上腺发育不良-生殖器畸形综合征"]},"tr":{"name":"IMAGe sendromu","synonyms":["Rahim içi büyüme geriliği-metafizyal displazi-adrenal hipoplazi konjenita-genital anomaliler sendromu"]}},"xrefs":[{"source":"OMIM","code":"614732","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618336","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1064803315"},{"source":"MONDO","code":"0013873","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564543","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846009","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":595337,"name":"Adrenal hypoplasia congenita","classifications":[156,193]},{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"POLE","name":"DNA polymerase epsilon, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30503519[PMID]","hgnc":"9177","ensembl":"ENSG00000177084","omim":"174762","loci":["12q24.33"]},{"symbol":"CDKN1C","name":"cyclin dependent kinase inhibitor 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22634751[PMID]","hgnc":"1786","ensembl":"ENSG00000129757","omim":"600856","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"24624461[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24624461[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10599684[PMID]","terms":[{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null}]}}