{"orpha":261323,"name":"21q22.11q22.12 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(21)(q22.11q22.12)","Monosomy 21q22.11q22.12"],"definition":"A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral &#64257;ssures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261323/","orphanet_url":"https://www.orpha.net/en/disease/detail/261323","names":{"fr":{"name":"Syndrome de microdélétion 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monosomie 21q22.11q22.12"],"definition":"Syndrome d'anomalie chromosomique rare d'origine génétique résultant d'une délétion partielle du bras long du chromosome 21, caractérisé par un retard de croissance pré- et postnatal, une petite taille, une déficience intellectuelle, un retard de développement avec troubles sévères du langage, une thrombocytopénie et une dysmorphie craniofaciale à type de microcéphalie, de fentes palpébrales inclinées vers le bas, d'oreilles d'implantation basse, de nez large, de vermillon supérieur mince et de commissures des lèvres inclinées vers le bas. Des anomalies, telles que l'agénésie du corps calleux, mises en évidence à l'IRM cérébrale, des troubles du comportement et des crises d'épilepsie peuvent être associés."},"de":{"name":"Mikrodeletionssyndrom 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monosomie 21q22.11q22.12"],"definition":"Ein seltenes, genetisch bedingtes Chromosomenanomalie-Syndrom, das aus einer partiellen Deletion des langen Arms von Chromosom 21 resultiert. Es ist gekennzeichnet durch prä- und postnatale Wachstumsverzögerung, Kleinwuchs, Intelligenzminderung, Entwicklungsverzögerung mit schwerer Sprachbehinderung, Thrombozytopenie und kraniofaziale Dysmorphie, zu der Mikrozephalie, nach unten geneigte Lidfalten, tief angesetzte Ohren, eine breite Nase, schmale Oberlippe und nach unten gebogene Mundwinkel gehören können. MRT-Anomalien des Gehirns (z. B. Agenesie des Corpus callosum), Verhaltensprobleme und Krampfanfälle können ebenfalls auftreten."},"es":{"name":"Síndrome de microdeleción 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monosomía 21q22.11q22.12"],"definition":"Es un síndrome de anomalías cromosómicas, genético y poco frecuente, resultante de una deleción parcial del brazo largo del cromosoma 21, caracterizado por retraso del crecimiento pre- y posnatal, talla baja, discapacidad intelectual, retraso del desarrollo con trastorno grave del lenguaje, trombocitopenia y dismorfia craneofacial que puede incluir microcefalia, fisuras palpebrales inclinadas hacia abajo, orejas de implantación baja, nariz ancha, bermellón superior delgado y comisuras de la boca inclinadas hacia abajo. El síndrome puede asociar anomalías en la RM cerebral (tales como agenesia del cuerpo calloso), trastornos de conducta y convulsiones."},"it":{"name":"Sindrome da microdelezione 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monosomia 21q22.11-q22.12","Monosomia 21q22.11q22.12","Sindrome da microdelezione 21q22.11-q22.12"],"definition":"È un'anomalia cromosomica genetica rara, causata dalla delezione parziale del braccio lungo del cromosoma 21, caratterizzata da ritardo della crescita pre- e postnatale, bassa statura, disabilità intellettiva, ritardo dello sviluppo associato a grave deficit del linguaggio, trombocitopenia e dismorfismi craniofacciali (microcefalia, rime palpebrali oblique verso il basso, orecchie a basso impianto, naso ampio, assottigliamento della porzione mucosa del labbro superiore e angoli della bocca rivolti verso il basso). Può associarsi ad anomalie cerebrali evidenti alla RMN, come l'agenesia del corpo calloso, e a problemi comportamentali e crisi epilettiche."},"nl":{"name":"21q22.11q22.12-microdeletiesyndroom","synonyms":["Del(21)(q22.11q22.12)","Monosomie 21q22.11q22.12"],"definition":"Een zeldzaam, genetisch syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 21, gekarakteriseerd door pre- en postnatale groeiachterstand, kleine gestalte, intellectuele beperking, ontwikkelingsachterstand met ernstige taalstoornis, trombocytopenie, en craniofaciale dysmorfie met mogelijk microcefalie, neerwaarts hellende ooglidspleten, laagstaande oren, brede neus, dun vermiljoen van de bovenlip, en naar benden gekeerde mondhoeken. Afwijkingen bij MRI van de hersenen (zoals agenesie van het corpus callosum), gedragsproblemen en insulten kunnen geassocieerd zijn."},"pt":{"name":"Síndrome de microdeleção 21q22"},"pl":{"name":"Zespół mikrodelecji 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monosomia 21q22.11q22.12","Monosomia 21q22.11-q22.12","Zespół mikrodelecji 21q22.11-q22.12"]},"cs":{"name":"Syndrom mikrodelece 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Monozomie 21q22.11-q22.12","Monozomie 21q22.11q22.12","21q22.11-q22.12 mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 21q22.11q22.12","synonyms":["Del(21)(q22.11q22.12)","Моносомія 21q22.11q22.12"],"definition":"A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral &#64257;ssures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated."},"zh":{"name":"21q22.11q22.12微缺失综合征","synonyms":["21q22.11q22.12单体"]},"tr":{"name":"21q22.11q22.12 mikrodelesyon sendromu","synonyms":["Del (21) (q22.11q22.12)","Monozomi 21q22.11q22.12"]}},"xrefs":[{"source":"OMIM","code":"619980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619981","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.M","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1330984666"},{"source":"MONDO","code":"0016845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3323,"name":"Braddock-Carey syndrome","status":"inactive"}],"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":262173,"name":"Partial deletion of the long arm of chromosome 21 syndrome","classifications":[147,156]},{"orpha":138047,"name":"Pierre Robin syndrome associated with a chromosomal anomaly","classifications":[147,156,200,209]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"KIF15","name":"kinesin family member 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28150392[PMID]_27549381[PMID]","hgnc":"17273","ensembl":"ENSG00000163808","omim":"617569","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"20578134[PMID]_7515754[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20578134[PMID]_7515754[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-03","source":"20578134[PMID]","terms":[{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001106","label":"Periorbital hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030799","label":"Scaphocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009597","label":"Short proximal phalanx of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009226","label":"Short proximal phalanx of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012172","label":"Stereotypical body rocking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Occasional (29-5%)","criteria":null}]}}