{"orpha":254516,"name":"Temple syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254516/","orphanet_url":"https://www.orpha.net/en/disease/detail/254516","names":{"fr":{"name":"Syndrome de Temple","definition":"Maladie génétique rare caractérisée par un retard de croissance pré- et post-natal, des difficultés à s'alimenter, une hypotonie musculaire, un retard de développement moteur (sans déficience intellectuelle ou avec une déficience intellectuelle légère) et une dysmorphie faciale légère à type de large front proéminent, de nez court avec une racine nasale plate et une pointe nasale large, de commissures des lèvres inclinées vers le bas, de palais ogival et de micrognathie. Les autres manifestations comprennent une obésité centrale à début infantile, une puberté précoce et des anomalies osseuses inconstantes (mains et pieds de petite taille, dolichospondylie, os longs fins, visage et crâne disproportionnés)."},"de":{"name":"Temple-Syndrom"},"es":{"name":"Síndrome de Temple","definition":"El síndrome de Temple es una enfermedad genética poco frecuente caracterizada por retraso del crecimiento pre- y postnatal, dificultades en la alimentación, hipotonía muscular, retraso del desarrollo motor (con o sin discapacidad intelectual leve) y leve dismorfia facial, que incluye frente ancha y prominente, nariz corta con raíz nasal plana y punta ancha, comisuras de la boca inclinadas hacia abajo, paladar ojival y micrognatia. Otras características adicionales incluyen obesidad central de inicio en la infancia, pubertad prematura y anomalías óseas variables (p. ej., manos y pies pequeños, dolicospondilia, huesos largos y delgados y desproporción craneofacial)."},"it":{"name":"Ritardo dello sviluppo motorio da difetto di espressione dei geni paterni in 14q32.2","definition":"La sindrome di Temple è una malattia genetica rara caratterizzata da ritardo della crescita pre- e post-natale, difficoltà di alimentazione, ipotonia muscolare, ritardo dello sviluppo motorio (con o senza disabilità intellettiva lieve) e dismorfismi facciali sfumati (fronte ampia e prominente, naso corto con radice piatta e punta ingrossata, angoli della bocca rivolti verso il basso, palato ogivale e micrognazia). Altri segni clinici sono l'obesità centrale ad esordio infantile, la pubertà precoce e le anomalie scheletriche variabili (mani e piedi piccoli, dolicospondilia, assottigliamento delle ossa lunghe, sproporzione craniofacciale)."},"nl":{"name":"Syndroom van Temple","definition":"Syndroom van Temple is een zeldzame, genetische ziekte die gekarakteriseerd wordt door pre- en postnatale groeiachterstand, voedingsproblemen, musculaire hypotonie, motorische ontwikkelingsachterstand (met of zonder milde intellectuele achterstand) en milde faciale dysmorfie, zoals breed en uitgesproken voorhoofd, korte neus met platte neuswortel en brede punt, naar beneden gekeerde mondhoeken, hoog gebogen verhemelte en micrognathie. Bijkomende kenmerken zijn onder meer in de kindertijd aanvangende centrale obesitas, premature puberteit en variabele botanomalieën (e.g. kleine handen en voeten, dolichospondylie, slanke pijpbeenderen en craniofaciale disproportie)."},"pt":{"name":"Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2"},"pl":{"name":"Opóźnienie rozwoju ruchowego z powodu ekspresji ojcowskiego wadliwego genu 14q32.2"},"cs":{"name":"Opožděný motorický vývoj způsobený defektem paternální exprese 14q32.2"},"uk":{"name":"Синдром Темпла","definition":"A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion)."},"zh":{"name":"Temple综合征","definition":"Temple综合征是一种罕见的遗传性疾病，其特征是出生前和出生后发育迟缓、喂养困难、肌张力低下、运动发育迟缓(有或不伴有轻度智力障碍)和轻度面部畸形，如宽大突出的额头、鼻根扁平、尖端宽的短鼻子、口角下歪、高颚弓和小颌畸形。其他特征包括儿童期起病的中心性肥胖、青春期早熟和多变的骨骼异常(例如手脚小、椎骨延长、长骨细长和头面部比例失调)。"},"tr":{"name":"Temple sendromu"}},"xrefs":[{"source":"OMIM","code":"616222","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014541","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14541","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000726750","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015558","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14","type":"Etiological subtype"},{"orpha":254531,"name":"Temple syndrome due to paternal 14q32.2 hypomethylation","type":"Etiological subtype"},{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14"}},{"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"],"via":{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion"}},{"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"],"via":{"orpha":254531,"name":"Temple syndrome due to paternal 14q32.2 hypomethylation"}},{"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"],"via":{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14"}},{"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"],"via":{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion"}},{"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"],"via":{"orpha":254531,"name":"Temple syndrome due to paternal 14q32.2 hypomethylation"}},{"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"],"via":{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14"}},{"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"],"via":{"orpha":254525,"name":"Temple syndrome due to paternal 14q32.2 microdeletion"}},{"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"],"via":{"orpha":254531,"name":"Temple syndrome due to paternal 14q32.2 hypomethylation"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"26377239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26377239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-02","source":"26862943[PMID]_24891339[PMID]_1681108[PMID]","terms":[{"hpo":"HP:0008947","label":"Floppy infant","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:0001518","label":"Small for gestational age","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:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","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:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007429","label":"Few cafe-au-lait spots","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null}]}}