{"orpha":444002,"name":"11q22.2q22.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(11)(q22.2q22.3)","Monosomy 11q22.2q22.3"],"definition":"A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444002/","orphanet_url":"https://www.orpha.net/en/disease/detail/444002","names":{"fr":{"name":"Syndrome de microdélétion 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Délétion 11q22.2q22.3","Monosomie 11q22.2q22.3"],"definition":"Anomalie chromosomique rare caractérisée par une déficience intellectuelle légère, un retard de développement, une petite taille, une hypotonie et une dysmorphie faciale. Des cas d'anxiété et de manque d'attention ont également été rapportés."},"de":{"name":"Mikrodeletionssyndrom 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Monosomie 11q22.2q22.3"]},"es":{"name":"Síndrome de microdeleción 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Monosomía 11q22.2q22.3"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por discapacidad intelectual leve, retraso en el desarrollo, talla baja, hipotonía y rasgos faciales dismórficos. También se ha descrito ansiedad y escasa capacidad de atención."},"it":{"name":"Sindrome da microdelezione 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Monosomia 11q22.2-q22.3","Monosomia 11q22.2q22.3","Sindrome da delezione 11q22.2-q22.3"],"definition":"La sindrome da microdelezione 11q22.2q22.3 è un'anomalia cromosomica rara, caratterizzata da disabilità intellettiva lieve, ritardo dello sviluppo, bassa statura, ipotonia e dismorfismi facciali. Possono associarsi ansia e difetto di attenzione."},"nl":{"name":"11q22.2q22.3-microdeletiesyndroom","synonyms":["Del(11)(q22.2q22.3)","Monosomie 11q22.2q22.3"],"definition":"11q22.2q22.3 microdeletiesyndroom is een zeldzame chromosomale anomale die gekarakteriseerd wordt door milde intellectuele achterstand, ontwikkelingsachterstand, kleine gestalte, hypotonie en dysmorfe gelaatskenmerken. Angst en een korte aandachtsspanne werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microdeleção 11q22.2q22.3"},"pl":{"name":"Zespół mikrodelecji 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Monosomia 11q22.2q22.3","Monosomia 11q22.2-q22.3","Zespół delecji11q22.2-q22.3"],"definition":"*Zespół mikrodelecji 11q22.2q22.3 jest rzadką aberracją chromosomową, która charakteryzuje się niepełnosprawnością intelektualną w stopniu lekkim, opóźnieniem rozwoju, niskim wzrostem, hipotonią i dysmorficznymi rysami twarzy. Opisywano również zaburzenia lękowe oraz zaburzenia koncentracji."},"cs":{"name":"Syndrom mikrodelece 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Monozomie 11q22.2-q22.3","Monozomie 11q22.2q22.3","11q22.2-q22.3 deleční syndrom"]},"uk":{"name":"Синдром мікроделеції 11q22.2q22.3","synonyms":["Del(11)(q22.2q22.3)","Моносомія 11q22.2q22.3"],"definition":"A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported."},"zh":{"name":"11q22.2q22.3微缺失综合征","synonyms":["11q22.2q22.3单体"],"definition":"11q22.2q22.3微缺失综合症是一种罕见的染色体异常，其特征是轻度智力障碍，发育迟缓，身材矮小，肌张力低下和面部畸形。也有焦虑和注意力不集中的报道。"},"tr":{"name":"11q22.2q22.3 mikrodelesyon sendromu","synonyms":["Del(11)(q22.2q22.3)","Monozomi 11q22.2q22.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680062","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":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25735893[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25735893[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-26","source":"25735893[PMID]","terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000753","label":"Autism with high cognitive abilities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011368","label":"Epidermal thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030190","label":"Oral motor hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null}]}}