{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["UPD(14)mat"],"definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96184/","orphanet_url":"https://www.orpha.net/en/disease/detail/96184","names":{"fr":{"name":"Syndrome de Temple lié à une disomie uniparentale maternelle du chromosome 14","synonyms":["UPD(14) maternelle","UPD(14)mat"],"definition":"Anomalie chromosomique rare caractérisée par un retard de croissance pré- et post-natal, une hypotonie, un retard moteur, une puberté précoce, une obésité, une petite taille à l'âge adulte, des mains et des pieds de petite taille, un léger déficit intellectuel et une légère dysmorphie faciale (bosse frontale, petit nez avec une pointe nasale large, philtrum court, micrognathie, palais creux)."},"de":{"name":"Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14","synonyms":["UPD(14)mat"],"definition":"Eine seltene Chromosomenanomalie, die durch pränatale und postnatale Wachstumsverzögerung, Muskelhypotonie, motorische Entwicklungsverzögerung, frühe Pubertät, Adipositas, Kleinwuchs, kleine Hände und Füße, leichte Intelligenzminderung und leichte Gesichtsdysmorphien (Balkonstirn, kurze Nase mit breiter Nasenspitze, Mikrogenie, hoher Gaumen, kurzes Philtrum) gekennzeichnet ist."},"es":{"name":"Síndrome de Temple por disomía uniparental materna del cromosoma 14","synonyms":["UPD(14)mat"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por retraso del crecimiento pre- y postnatal, hipotonía, retraso motor, pubertad precoz, obesidad, talla baja adulta, pies y manos pequeños, leve discapacidad intelectual y leves rasgos faciales dismórficos (frente prominente, nariz corta con punta nasal ancha, micrognatia, paladar alto, surco nasolabial corto)."},"it":{"name":"Sindrome di Temple da disomia uniparentale materna del cromosoma 14","synonyms":["UPD(14)mat"],"definition":"La disomia uniparentale materna del cromosoma 14 è un'anomalia cromosomica rara caratterizzata da ritardo della crescita pre- e post-natale, ipotonia, ritardo motorio, pubertà precoce, obesità, bassa statura nell'età adulta, mani e piedi piccoli, lieve disabilità intellettiva e dismorfismi facciali sfumati (fronte bombata, naso corto con punta larga, micrognazia, palato ogivale, filtro corto)."},"nl":{"name":"Syndroom van Temple door maternale uniparentale disomie van chromosoom 14","synonyms":["UPD(14)mat"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door prenatale en postnatale groeiretardatie, hypotonie, motorische achterstand, vroege puberteit, obesitas, kleine volwassen gestalte, kleine handen en voeten, milde intellectuele achterstand, en milde dysmorfe gelaatskenmerken (boller voorhoofd, korte neus met brede neuspunt, micrognathie, hoog gehemelte, kort filtrum)."},"pt":{"name":"Dissomia uniparental de origem materna, cromossoma 14"},"pl":{"name":"Zespół Temple spowodowany matczyną jednorodzicielską disomią chromosomu 14","synonyms":["UPD(14)mat"],"definition":"Rzadka anomalia chromosomowa charakteryzująca się prenatalnym i postnatalnym opóźnieniem wzrostu, hipotonią, opóźnieniem rozwoju ruchowego, przedwczesnym dojrzewaniem, otyłością, niskim wzrostem u dorosłych, małymi dłońmi i stopami, łagodną niepełnosprawnością intelektualną i łagodną dysmorfią rysów twarzy (wydatne czoło, krótki nos z szerokim czubkiem, małożuchwie, wysokie podniebienie, krótka rynienka podnosowa)."},"cs":{"name":"Maternální uniparentální dizomie chromozomu 14","synonyms":["UPD(14)mat"]},"uk":{"name":"Синдром Темпла, зумовлений материнською уніпарентною дисомією хромосоми 14","synonyms":["UPD(14)mat"],"definition":"A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)."},"zh":{"name":"母源性14号染色体单亲二体所致Temple综合征","synonyms":["母源性UPD(14)"],"definition":"母源性14号染色体单亲二体是一种罕见的染色体异常，其特征是产前和产后生长迟缓、肌张力减退、运动发育迟缓、青春期提前、肥胖、成人期身材矮小、手足小、智力障碍和面部轻度畸形特征（额头突出、鼻尖宽、鼻子短、小颌畸形、高腭弓、人中短）。"},"tr":{"name":"14. kromozomun maternal uniparental dizomisine bağlı Temple sendromu","synonyms":["UPD (14) mat"]}},"xrefs":[{"source":"OMIM","code":"616222","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680248","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]},{"orpha":254516,"name":"Temple syndrome","classifications":[147,156,181,193]}],"children":[],"genes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"]},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"]},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":64.0,"area":"Worldwide","status":"Validated","source":"28640239[PMID]_24891339[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28640239[PMID]_24891339[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-21","source":"24891339[PMID]_29468661[PMID]","terms":[{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}