{"orpha":261236,"name":"16p13.11 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(16)(p13.11)","Monosomy 16p13.11"],"definition":"A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, epilepsy, neuropsychiatric and behavioral problems, microcephaly, short stature, dysmorphic features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and congenital heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261236/","orphanet_url":"https://www.orpha.net/en/disease/detail/261236","names":{"fr":{"name":"Syndrome de microdélétion 16p13.11","synonyms":["Del(16)(p13.11)","Monosomie 16p13.11"],"definition":"Syndrome rare caractérisé par une délétion partielle du bras court du chromosome 16, se manifestant par un retard global de développement moteur et du langage, une épilepsie, des troubles neuropsychiatriques et comportementaux, une microcéphalie, une petite taille, une dysmorphie (pouvant inclure une brachycéphalie, un hypertélorisme, un épicanthus, des fentes palpébrales inclinées vers le bas, un nez court, des oreilles d'implantation basse, une fente palatine, une bouche large et une lèvre supérieure fine), ainsi que des malformations cardiaques congénitales. D'autres signes cliniques peuvent inclure un reflux gastro-oesophagien, un pectus excavatum, un torticolis, une hyperlaxité ligamentaire, une obésité, une température corporelle instable, une syndactylie, une cryptorchidie, un micropénis et un hypospadias."},"de":{"name":"Mikrodeletionssyndrom 16p13.11","synonyms":["Del(16)(p13.11)","Monosomie 16p13.11"],"definition":"Ein seltenes Syndrom mit partieller Deletion des kurzen Arms von Chromosom 16, das durch allgemeine Entwicklungsverzögerung, motorische und sprachliche Verzögerung, Epilepsie, neuropsychiatrische und Verhaltensprobleme, Mikrozephalie, Kleinwuchs, dysmorphe Merkmale (darunter Brachyzephalie, Hypertelorismus, Epikanthus, nach unten geneigte Lidspalten, kurze Nase, tiefsitzende Ohren, Gaumenspalte, breiter Mund und dünne Oberlippe) und angeborene Herzfehler gekennzeichnet ist. Weitere klinische Merkmale können gastroösophagealer Reflux, Trichterbrust, Torticollis, Hyperlaxität der Bänder, Adipositas, instabile Körpertemperatur, Syndaktylie, Kryptorchismus, Mikropenis und Hypospadie sein."},"es":{"name":"Síndrome de microdeleción 16p13.11","synonyms":["Del(16)(p13.11)","Monosomía 16p13.11"],"definition":"Es un síndrome poco frecuente de deleción parcial del brazo corto del cromosoma 16 caracterizado por retraso global del desarrollo, motor y del lenguaje, epilepsia, trastornos neuropsiquiátricos y de la conducta, microcefalia, talla baja, rasgos dismórficos (que pueden incluir braquicefalia, hipertelorismo, epicanto, fisuras palpebrales de inclinación descendente, nariz corta, orejas de implantación baja, paladar hendido, boca ancha y labio superior delgado), y cardiopatías congénitas. Otras características clínicas pueden incluir reflujo gastroesofágico, tórax en embudo, tortícolis, hiperlaxitud ligamentosa, obesidad, inestabilidad térmica, sindactilia, criptorquidia, micropene e hipospadias."},"it":{"name":"Sindrome da microdelezione 16p13.11","synonyms":["Del(16)(p13.11)","Monosomia 16p13.11"],"definition":"La sindrome da microdelezione 16p13.11 è una sindrome descritta di recente, caratterizzata da ritardo dello sviluppo, microcefalia, epilessia, bassa statura, dismorfismi facciali e disturbi del comportamento."},"nl":{"name":"16p13.11-microdeletiesyndroom","synonyms":["Del(16)(p13.11)","Monosomie 16p13.11"],"definition":"Een zeldzaam syndroom door partiële deletie van de korte arm van chromosoom 16, gekenmerkt door algehele ontwikkelingsachterstand, motorische achterstand en taalachterstand, epilepsie, neuropsychiatrische problemen en gedragsproblemen, microcefalie, kleine gestalte, dysmorfe kenmerken (mogelijk met onder meer brachycefalie, hypertelorisme, epicanthus, schuin naar beneden hellende ooglidspleten, korte neus, laagstaande oren, gespleten gehemelte, brede mond en dunne bovenlip), en congenitale hartdefecten. Mogelijke bijkomende klinische kenmerken zijn onder meer gastro-oesofageale reflux, pectus excavatum (trechterborst), torticollis, hyperlaxiteit van ligamenten, obesitas, onstabiele lichaamstemperatuur, syndactylie, cryptorchisme, micropenis, en hypospadie."},"pt":{"name":"Síndrome de microdeleção 16p13.1","definition":"A síndrome de microdeleção 16p13.11 foi recentemente descrita e caracteriza-se por atraso do desenvolvimento psico-motor, microcefalia, epilepsia, baixa estatura, anomalias morfométricas faciais e problemas comportamentais."},"pl":{"name":"Zespół mikrodelecji 16p13.11","synonyms":["Del(16)(p13.11)","Monosomia 16p13.11"]},"cs":{"name":"Syndrom mikrodelece 16p13.11","synonyms":["Del(16)(p13.11)","Monozomie 16p13.11"]},"uk":{"name":"Синдром мікроделеції 16p13.11","synonyms":["Del(16)(p13.11)","Моносомія 16p13.11"],"definition":"16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems."},"zh":{"name":"染色体16p13.11微缺失综合征","synonyms":["16p13.11单体"],"definition":"16p13.11微缺失综合征是近年报道的一种以发育迟缓、小头畸形、癫痫、身材矮小、面部畸形和行为问题为特征的综合征。"},"tr":{"name":"16p13.11 mikrodelesyon sendromu","synonyms":["Del (16) (p13.11)","Monozomi 16p13.11"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1887710902"},{"source":"MONDO","code":"0016836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Worldwide","status":"Not yet validated","source":"24105370[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_23637818[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"21315189[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}