{"orpha":420584,"name":"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Culler-Jones syndrome"],"definition":"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420584/","orphanet_url":"https://www.orpha.net/en/disease/detail/420584","names":{"fr":{"name":"Syndrome de polydactylie postaxiale-anomalies antéhypophysaires-dysmorphie faciale","synonyms":["Syndrome de Culler-Jones"],"definition":"Le syndrome de polydactylie postaxiale-anomalies antéhypophysaires-dysmorphie faciale est un trouble génétique rare du développement survenant au cours de l'embryogenèse. Il se caractérise principalement par un hypopituitarisme congénital et/ou une polydactylie postaxiale. Il peut être associé à une petite taille, un retard de l'âge osseux, un hypogonadisme hypogonadotropique, et/ou des anomalies de l'étage moyen du visage (hypotélorisme, légère hypoplasie de l'étage moyen du visage, pont nasal plat, fente labiale et/ou palatine). Les données fréquentes à l'imagerie par résonance magnétique sont la présence d'un lobe pituitaire antérieur hypoplasique et d'un lobe pituitaire postérieur ectopique."},"de":{"name":"Postaxiale Polydaktylie-vordere Hypophysenanomalien-Gesichtsdysmorphien-Syndrom","definition":"Eine seltene, genetisch bedingte Entwicklungsstörung während der Embryogenese, die hauptsächlich durch kongenitalen Hypopituitarismus und/oder postaxiale Polydaktylie gekennzeichnet ist. Sie kann mit Kleinwuchs, verzögertem Knochenalter, hypogonadotropem Hypogonadismus und/oder Mittellinien-Gesichtsdefekten (z. B. Hypotelorismus, leichte Mittelgesichtshypoplasie, flacher Nasenrücken und Lippen- und/oder Gaumenspalte) einhergehen. Hypoplastischer Hypophysenvorderlappen und ektopischer Hypophysenhinterlappen sind häufige Befunde bei der MRT-Untersuchung."},"es":{"name":"Síndrome de polidactilia postaxial-anomalías de la hipofisaria anterior-dismorfia facial","definition":"El síndrome de polidactilia postaxial-anomalías de la hipófisis anterior-dismorfia facial es un defecto genético del desarrollo durante la embriogénesis poco frecuente caracterizado principalmente por hipopituitarismo congénito y/o polidactilia postaxial. Se puede asociar con estatura baja, edad ósea retrasada, hipogonadismo hipogonadotrópico y/o defectos faciales en la línea media (por ejemplo, hipotelorismo, leve hipoplasia del tercio medio facial, puente nasal plano y labio leporino y/o paladar hendido). La hipoplasia de la hipófisis anterior y el lóbulo pituitario posterior ectópico son hallazgos frecuentes en el examen mediante MRI."},"it":{"name":"Sindrome polidattilia postassiale-anomalie dell'adenoipofisi-dismorfismi facciali","definition":"La polidattilia postassiale associata ad anomalie dell'adenoipofisi e dismorfismi facciali è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato prevalentemente da ipopituitarismo congenito e/o polidattilia postassiale. Altri segni clinici sono la bassa statura, il ritardo dell'età ossea, l'ipogonadismo ipogonadotropo e/o i difetti della linea mediana del volto (ipotelorismo, lieve ipoplasia medio-facciale, appiattimento della radice del naso, labioschisi e/o palatoschisi). Spesso la RMN evidenzia una ipoplasia del lobo anteriore e del lobo ectopico posteriore dell'ipofisi."},"nl":{"name":"Postaxiale polydactylie - anomalieën van adenohypofyse - faciale dysmorfie-syndroom","synonyms":["Syndroom van Culler-Jones"],"definition":"Postaxiale polydactylie - anterieure hypofyseafwijkingen - faciale dysmorfie-syndroom is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese dat voornamelijk gekarakteriseerd wordt door congenitaal hypopituïtarisme en/of postaxiale polydactylie. Het kan geassocieerd zijn met een kleine gestalte, vertraagde botmaturatie, hypogonadotroop hypogonadisme, en/of defecten in de middellijn van het gelaat (e.g. hypotelorisme, milde hypoplasie van het middengezicht, platte neusbrug, en gespleten lip eb/of verhemelte). Hypoplastische anterieure hypofyse en ectopische posterieure hypofysekwab zijn frequente bevindingen bij MRI-onderzoek."},"pt":{"name":"Síndrome de polidactilia pós-axial-anomalias da adenohipófise-dismorfia facial","synonyms":["Síndrome Culler-Jones","Síndrome de polidactilia pós-axial-anomalias da hipófise anterior-dismorfia facial"]},"pl":{"name":"Zespół polidaktylii pozaosiowej, wad części przedniej przysadki i dysmorfii twarzy","synonyms":["Culler-Jones syndrome"]},"cs":{"name":"Syndrom zahrnující postaxiální polydaktylii, anomálie přední hypofýzy a faciální dysmorfismus","synonyms":["Culler-Jones syndrome"]},"uk":{"name":"Синдром постаксіальної полідактилії-аномалії передньої частки гіпофіза-лицьового диcморфізму","synonyms":["Синдром Каллера-Джонса"],"definition":"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination."},"zh":{"name":"轴后性多指症-垂体前叶发育异常-面部畸形综合征","synonyms":["卡勒琼斯综合征"],"definition":"后轴多指-垂体前叶异常-面部畸形综合征是一种主要以罕见的遗传性胚胎期发育异常导致的疾病，主要表现为先天性垂体机能减退合并轴后性多指症。还可能与身材矮小，骨龄延迟，促性腺功能低下，性腺功能减退和/或面部中线缺陷（例如，器官距离过近，面部中度轻度发育不全，鼻梁扁平以及唇腭裂）。MRI检查中常见垂体前叶增生和异位垂体后叶。"},"tr":{"name":"Postaksiyal polidaktili-ön hipofiz anomalileri-fasiyal dismorfizm sendromu","synonyms":["Culler-Jones sendromu"]}},"xrefs":[{"source":"OMIM","code":"615849","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13349","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2245,"name":"OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GLI2","name":"GLI family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24744436[PMID]","hgnc":"4318","ensembl":"ENSG00000074047","omim":"165230","loci":["2q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":112.0,"area":"Worldwide","status":"Validated","source":"24744436[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24744436[PMID]"}],"phenotypes":null}