{"orpha":531151,"name":"9q21.13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-531151/","orphanet_url":"https://www.orpha.net/en/disease/detail/531151","names":{"fr":{"name":"Syndrome de microdélétion 9q21.13","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de développement global, une déficience intellectuelle, un retard de développement de la parole et du langage, une épilepsie, un comportement autistique et une dysmorphie faciale modérée (un visage allongé, un front étroit, des sourcils arqués, des fentes palpébrales horizontales, un hypertélorisme, un épicanthus, une hypoplasie médiane du visage, un nez court, un philtrum long et non marqué, une lèvre supérieure mince, une macrostomie et un menton proéminent). Les autres signes cliniques variables sont la microcéphalie, l'hypotonie, l'hypertrichose et le strabisme."},"de":{"name":"Mikrodeletionssyndrom 9q21.13","definition":"Ein genetisch bedingte syndromale Form der Intelligenzminderung, die durch eine globale Entwicklungsverzögerung, intellektuelle Beeinträchtigung, verzögerte Sprech- und Sprachentwicklung, Epilepsie, autistisches Verhalten und mäßige Gesichtsdysmorphien (u. a. längliches Gesicht, schmale Stirn, gewölbte Augenbrauen, horizontale Lidspalten, Hypertelorismus, Epikanthus, Abflachung des Mittelgesichts, kurze Nase, langes und unterentwickeltes Philtrum, dünne Oberlippe, Makrostomie und vorstehendes Kinn) gekennzeichnet ist. Weitere variable Erscheinungsformen sind Mikrozephalie, Hypotonie, Hypertrichose und Strabismus."},"es":{"name":"Síndrome de microdeleción 9q21.13","definition":"Es un síndrome malformativo, con discapacidad intelectual, de origen genético y poco frecuente caracterizado por un retraso global del desarrollo, discapacidad intelectual, retraso en el desarrollo del habla y el lenguaje, epilepsia, comportamiento autista y dismorfia facial moderada (incluyendo cara alargada, frente estrecha, cejas arqueadas, fisuras palpebrales horizontales, hipertelorismo, epicanto, aplanamiento mediofacial, nariz corta, filtrum largo y plano, labio superior fino, macrostomia y mentón prominente). Otras manifestaciones variables adicionales incluyen microcefalia, hipotonía, hipertricosis y estrabismo."},"it":{"name":"Sindrome da microdelezione 9q21.13","definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, ritardo del linguaggio, epilessia, tratti autistici e dismorfismi facciali moderati (viso allungato, fronte stretta, sopracciglia arcuate, rime palpebrali orizzontali, ipertelorismo, epicanto, appiattimento della porzione media del viso, naso corto, filtro lungo poco marcato, labbro superiore sottile, macrostomia e mento prominente). I pazienti possono presentare anche microcefalia, ipotonia, ipertricosi e strabismo."},"nl":{"name":"9q21.13-microdeletiesyndroom","definition":"Een zeldzaam, genetisch malformatiesyndroom met intellectuele achterstand, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, vertraagde spraak- en taalontwikkeling, epilepsie, autistisch gedrag, en matige faciale dysmorfie (met onder meer langwerpig aangezicht, smal voorhoofd, gebogen wenkbrauwen, horizontale ooglidspleten, hypertelorisme, epicanthus, plat middengezicht, korte neus, lang en structuurloos filtrum, dunne bovenlip, macrostomie, en prominente kin). Bijkomende variabele manifestaties zijn onder meer microcefalie, hypotonie, hypertrichose, en strabisme."},"pt":{"name":"Síndrome de microdeleção 9q21.13"},"pl":{"name":"Zespół mikrodelecji 9q21.13"},"cs":{"name":"Mikrodeleční syndrom 9q21.13"},"uk":{"name":"Синдром мікроделеції 9q21.13","definition":"A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus."},"zh":{"name":"9q21.13微缺失综合症","definition":"一种罕见的遗传性智障畸形综合征，其特征是全面发育迟缓、智力障碍、语言发育迟缓、癫痫、自闭症行为和中度面部畸形（包括脸部拉长、前额狭窄、娥眉、水平睑裂、器官间距过远、内眦赘皮、中面部扁平、短鼻、长而无特征的人中、上唇薄、大口畸形、下巴突出）。其他可变的表现包括小头畸形、张力过低、多毛症和斜视。"},"tr":{"name":"9q21.13 mikrodelesyon sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","classifications":[147,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23279911[PMID]_24355400[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23279911[PMID]_24355400[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-06","source":"24501764[PMID]_25348648[PMID]_26173930[PMID]_29904177[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030809","label":"Abnormal tongue morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null}]}}