{"orpha":314389,"name":"Xq12-q13.3 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(X)(q12-q13.3)","Kaya-Prontera syndrome"],"definition":"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314389/","orphanet_url":"https://www.orpha.net/en/disease/detail/314389","names":{"fr":{"name":"Syndrome de duplication Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Syndrome de Kaya-Prontera"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du long bras du chromosome X. Il se caractérise par un retard de développement global, un comportement autistique, une microcéphalie et une dysmorphie faciale (incluant des fentes palpébrales obliques en bas et en dehors, un pont nasal déprimé, des narines antéversées, un long philtrum, des coins de la bouche orientés vers le bas). Certains patients présentent aussi des convulsions."},"de":{"name":"Duplikations-Syndrom Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Kaya-Prontera-Syndrom"],"definition":"Das Duplikationssyndrom Xq12-q13.3 ist seltene Chromosomenanomalie, die aus der partiellen Duplikation des langen Arms von Chromosom X resultiert. Es ist gekennzeichnet durch eine globale Entwicklungsverzögerung, autistisches Verhalten, Mikrozephalie und Gesichtsdysmorphie (einschließlich nach unten verlaufender Lidspalten, abgesenkter Nasenrücken, antevertierte Nasenlöcher, langes Philtrum, nach unten verlaufende Mundwinkel). Bei einigen Patienten wurde auch über Krampfanfälle berichtet."},"es":{"name":"Síndrome de duplicación Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Síndrome de Kaya-Prontera"],"definition":"El síndrome de duplicación Xq12-q13.3 es una anomalía cromosómica poco frecuente que resulta de la duplicación parcial del brazo largo del cromosoma X. Está caracterizado por un retraso global del desarrollo, comportamiento autista, microcefalia y dismorfia facial (incluyendo fisuras palpebrales inclinadas hacia abajo, puente nasal hundido, narinas antevertidas, surco nasolabial largo, comisuras de la boca inclinadas hacia abajo). También se ha notificado convulsiones en algunos pacientes."},"it":{"name":"Sindrome da duplicazione Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Sindrome di Kaya-Prontera"],"definition":"La sindrome da duplicazione Xq12-q13.3 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma X. È caratterizzata da ritardo dello sviluppo globale, comportamento autistico, microcefalia e dismorfismi facciali (rime palpebrali oblique verso il basso, sella nasale infossata, narici anteverse, filtro lungo, angoli della bocca rivolti verso il basso). Alcuni pazienti presentano crisi epilettiche."},"nl":{"name":"Xq12-q13.3-duplicatiesyndroom","synonyms":["Dup(X)(q12-q13.3)","Syndroom van Kaya-Prontera"],"definition":"Xq12-q13.3 duplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom X, en wordt gekarakteriseerd door algemene ontwikkelingsachterstand, autistisch gedrag, microcefalie en faciale dysmorfie (inclusief neerwaartse ooglidspleten, ingedrukte neusbrug, opengesperde neusvleugels, lang filtrum, naar beneden gekeerde mondhoeken). Bij sommige patiënten werden ook reeds insulten gerapporteerd."},"pt":{"name":"Síndrome de duplicação Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Síndrome Kaya-Prontera"]},"pl":{"name":"Zespół duplikacji Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)"]},"cs":{"name":"Duplikační syndrom Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)"]},"uk":{"name":"Синдром дуплікації Xq12-q13.3","synonyms":["Dup(X)(q12-q13.3)","Синдром Кайя-Пронтера"],"definition":"Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients."},"zh":{"name":"Xq12-q13.3重复综合征","synonyms":["Xq12-q13.3重复"],"definition":"Xq12-q13.3重复综合征是一种罕见的染色体异常综合征，由X染色体长臂部分重复引起，表现为整体发育迟缓、孤独症行为、小头畸形和面部畸形（包括睑裂下倾、鼻梁凹陷、鼻孔前倾、人中过长、嘴角下倾等）。部分病人也有癫痫发作的报道。"},"tr":{"name":"Xq12-q13.3 duplikasyon sendromu","synonyms":["Dup(X)(q12-q13.3)"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","classifications":[147,156]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22213401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-28","source":"22213401[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009908","label":"Anterior creases of earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100739","label":"Bulimia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011265","label":"Cleft earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003282","label":"Decreased circulating alkaline phosphatase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001054","label":"Numerous nevi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null}]}}