{"orpha":96123,"name":"Monosomy 22 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(22)","Deletion 22"],"definition":"A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96123/","orphanet_url":"https://www.orpha.net/en/disease/detail/96123","names":{"fr":{"name":"Syndrome de monosomie 22","synonyms":["Del(22)","Délétion 22"],"definition":"Syndrome rare d'anomalie des autosomes dont le phénotype est très variable, caractérisé typiquement par une petite taille, des anomalies articulaires (dysplasie, hyperlaxité articulaire, contractures, dislocation), des anomalies cardiaques congénitales et une dysmorphie craniofaciale (microcéphalie, front haut, proéminent, étroit et/ou avec présence de poils, épicanthus, fentes palpébrales petites et/ou inclinées vers le haut, pont nasal large, haut ou déprimé et malformations des oreilles). En l'absence de décès prématuré, les patients connaissent un retard de développement moteur et une déficience intellectuelle."},"de":{"name":"Monosomie 22","synonyms":["Del(22)","Deletion 22"],"definition":"Eine seltene Chromosomenanomalie, die einhergeht mit einem sehr variablen Phänotyp. Assoziiert sind typischerweise Kleinwuchs, Gelenkanomalien (z. B. Dysplasie, Überstreckbarkeit, Kontrakturen, Dislokation), angeborene Herzfehler und kraniofaziale Dysmorphien (inkl. Mikrozephalie, eine hohe, vorstehende, schmale und/oder behaarte Stirn, Epikanthus, nach oben geneigte und/oder kleine Lidspalten, breiter, hoher oder eingedrückter Nasenrücken und fehlgebildete Ohren). Bei Patienten, die nicht frühzeitig versterben, wird eine verzögerte motorische Entwicklung und Intelligenzminderung beobachtet."},"es":{"name":"Síndrome de monosomía 22","synonyms":["Del(22)","Deleción 22"],"definition":"Es un síndrome por anomalías autosómico y poco frecuente, con un fenotipo altamente variable, caracterizado típicamente por talla baja, anomalías articulares (p. ej. displasia, hiperextensibilidad, contracturas, luxación), defectos cardíacos congénitos y dismorfia craneofacial (incluyendo microcefalia, frente alta, prominente, estrecha y/o con exceso de vello, epicanto, fisuras palpebrales inclinadas hacia arriba y/o pequeñas, puente nasal ancho, alto o deprimido y pabellones auriculares malformados). En los pacientes que no fallecen de forma temprana se observa retraso del desarrollo motor y discapacidad intelectual."},"it":{"name":"Sindrome monosomia 22","synonyms":["Del(22)","Delezione 22"],"definition":"Si tratta di una anomalia autosomica rara, caratterizzata da un quadro clinico molto variabile, che di solito comprende la bassa statura, le anomalie articolari (displasia, iperestensibilità, contratture, dislocazione), le cardiopatie congenite e i dismorfismi craniofacciali (microcefalia, fronte altra, prominente, stretta e/o ipertricotica, epicanto, rime palpebrali oblique verso l'alto e/o piccole, sella nasale ampia prominente o infossata, orecchie malformate). I pazienti che non muoiono prematuramente presentano ritardo dello sviluppo motorio e disabilità intellettiva."},"nl":{"name":"Monosomie 22-syndroom","synonyms":["Del(22)","Deletie 22"],"definition":"Een zeldzaam, autosomaal anomalie-syndroom met een zeer variabel fenotype dat doorgaans gekarakteriseerd wordt door korte lichaamslengte, gewrichtsafwijkingen (e.g. dysplasie, hyperextensibiliteit, contracturen, dislocatie), congenitale hartdefecten, en craniofaciale dysmorfie (met onder meer microcefalie, een hoog en prominent, smal en/of harig voorhoofd, epicanthus, schuin naar boven hellende en/of kleine ooglidspleten, brede, hoge of ingezakte neusbrug en misvormde oren). Motor ontwikkelingsachterstand en intellectuele beperking worden waargenomen bij patiënten bij wie geen vroegtijdig overlijden optreedt."},"pt":{"name":"Monossomia 22"},"pl":{"name":"Zespół monosomii chromosomu 22","synonyms":["Del(22)","Delecja 22"]},"cs":{"name":"Monozomie 22","synonyms":["Del(22)","Delece 22"]},"uk":{"name":"Моносомія 22","synonyms":["Del(22)","Делеція 22"],"definition":"A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise."},"zh":{"name":"22单体","synonyms":["22号染色体单体缺失"],"definition":"一种罕见的常染色体异常综合征，具有高度多变的表型，通常表现为身材矮小、关节异常（如发育不良、过度伸展、挛缩、脱位）、先天性心脏缺陷和颅面畸形（包括小头畸形，前额高、突出、狭窄和/或多毛，内眦赘皮，眼睑裂上斜和/或小，鼻梁宽、高或凹陷，和耳朵畸形）。在未出现早期死亡的患者中观察到运动发育迟缓和智力障碍。"},"tr":{"name":"Monozomi 22","synonyms":["Del (22)","Delesyon 22"]}},"xrefs":[{"source":"ICD-10","code":"Q93.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98141,"name":"Total autosomal monosomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-26","source":"27765635[PMID]_24171707[PMID]_19659869[PMID]_10432935[PMID]_9511978[PMID]_7253004[PMID]_15588863[PMID]_2770830[PMID]","terms":[{"hpo":"HP:0000606","label":"Abnormality of the periorbital region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005359","label":"Aplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010541","label":"Cutis gyrata of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010785","label":"Gonadal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005272","label":"Prominent nasolabial fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null}]}}