{"orpha":52022,"name":"Potocki-Shaffer syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["11p11.2 deletion","Proximal 11p deletion syndrome"],"definition":"A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52022/","orphanet_url":"https://www.orpha.net/en/disease/detail/52022","names":{"fr":{"name":"Syndrome de Potocki-Shaffer","synonyms":["Délétion 11p11.2","Délétion proximale 11p"],"definition":"Monosomie partielle rare des autosomes caractérisée par un retard global de développement, une déficience intellectuelle, des exostoses cartilagineuses multiples et des anomalies craniofaciales (brachycéphalie, foramina bipariétaux, larges fontanelles, craniosynostose, ptose, épicanthus, pont nasal proéminent et pointe nasale large et déprimée, narines hypoplastiques, philtrum court, lèvre supérieure tournée vers le bas et micrognathie). Parmi les autres caractéristiques rapportées figurent, entre autres, des troubles du comportement, une myopie, un strabisme et une surdité neurosensorielle."},"de":{"name":"Potocki-Shaffer-Syndrom","synonyms":["Deletion 11p11.2","Proximales 11p-Deletionssyndrom"],"definition":"Eine partielle autosomale Monosomie, die charakterisiert ist durch globale Entwicklungsverzögerung, Intelligenzminderung, multiple knorpelige Exostosen und kraniofaziale Anomalien (wie Brachyzephalie, biparietale Foramina, große Fontanellen, Kraniosynostose, Ptosis, Epikanthusfalten, prominenter Nasenrücken mit breiter, abgesenkter Nasenspitze, hypoplastische Nasenlöcher, kurzes Philtrum, nach unten gezogene Oberlippe und Mikrognathie). Darüber hinaus werden u. a. Verhaltensauffälligkeiten, Kurzsichtigkeit, Schielen und Schallempfindungsschwerhörigkeit berichtet."},"es":{"name":"Síndrome de Potocki-Shaffer","synonyms":["Deleción 11p11.2","Síndrome de deleción proximal 11p"],"definition":"Es una monosomía autosómica parcial poco frecuente caracterizada por retraso global del desarrollo, discapacidad intelectual, exostosis cartilaginosa múltiple y anomalías craneofaciales (como braquicefalia, foramen biparietal, fontanelas agrandadas, craneosinostosis, ptosis, pliegues epicánticos, puente nasal prominente con punta nasal ancha y deprimida, narinas hipoplásicas, filtrum corto, labio superior de inclinación descendente y micrognatia). Otros hallazgos descritos son: trastornos de conducta, miopía, estrabismo e hipoacusia neurosensorial, entre otras."},"it":{"name":"Sindrome di Potocki-Shaffer","synonyms":["Delezione 11p11.2","Sindrome da delezione 11p prossimale"],"definition":"Si tratta di una monosomia autosomica parziale rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, esostosi cartilaginee multiple e dismorfismi craniofacciali (brachicefalia, forami biparietali, fontanelle ampie, craniosinostosi, ptosi, epicanto, sella nasale prominente con punta del naso larga e infossata, narici ipoplasiche, filtro corto, labbro superiore rivolto verso il basso e micrognazia). I pazienti possono presentare anche anomalie comportamentali, miopia, strabismo e sordità neurosensoriale."},"nl":{"name":"Syndroom van Potocki-Shaffer","synonyms":["11p11.2-deletie","Proximale 11p-deletiesyndroom"],"definition":"Een zeldzame partiele autosomale monosomie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, multipele kraakbenige exostosen, en craniofaciale anomalieën (zoals brachycefalie, foramen biparietale, grote fontanellen, craniosynostose, ptosis, epicanthusplooien, prominente neusbrug met brede en ingedrukte neuspunt, hypoplastische neusgaten, kort filtrum, naar beneden gekeerde bovenlip, en micrognathie). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer gedragsafwijkingen, myopie, strabisme, en sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de Potocki-Shaffer","synonyms":["Deleção 11p11.2","Síndrome deleção 11p proximal"]},"pl":{"name":"Zespół Potockiego i Shaffera","synonyms":["Delecja 11p11.2","Zespół proksymalnej delecji 11p"]},"cs":{"name":"Potocké-Shafferové syndrom","synonyms":["Delece 11p11.2","Syndrom proximální delece 11p","Potocki-Shafferové syndrom"]},"uk":{"name":"Синдром Потоцького-Шаффера","synonyms":["Делеція 11p11.2","Синдром проксимальної делеції 11p"],"definition":"A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others."},"zh":{"name":"Potocki-Shaffer综合征","synonyms":["11号染色体短臂近端缺失综合征"]},"tr":{"name":"Potocki-Shaffer sendromu","synonyms":["11p11.2 delesyonu","Proksimal 11p delesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"601224","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.B1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1587521558"},{"source":"MONDO","code":"0011022","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538356","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832588","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9762","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261947,"name":"Partial deletion of the short arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ALX4","name":"ALX homeobox 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15852040[PMID]","hgnc":"450","ensembl":"ENSG00000052850","omim":"605420","loci":["11p11.2"]},{"symbol":"EXT2","name":"exostosin glycosyltransferase 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15852040[PMID]","hgnc":"3513","ensembl":"ENSG00000151348","omim":"608210","loci":["11p11.2"]},{"symbol":"PHF21A","name":"PHD finger protein 21A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22770980[PMID]","hgnc":"24156","ensembl":"ENSG00000135365","omim":"608325","loci":["11p11.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"23239541[PMID]_15852040[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23239541[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20140962[PMID]","terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002697","label":"Parietal foramina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":null}]}}