{"orpha":261330,"name":"Distal 22q11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal del(22)(q11.2)","Distal monosomy 22q11.2"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261330/","orphanet_url":"https://www.orpha.net/en/disease/detail/261330","names":{"fr":{"name":"Syndrome de microdélétion 22q11.2 distale","synonyms":["Del(22)(q11.2) distale","Monosomie 22q11.2 distale"],"definition":"Syndrome d'anomalies chromosomiques rares résultant de la délétion partielle du bras long du chromosome&#8239;22, en dehors de la région critique du syndrome de DiGeorge. Le phénotype se caractérise par la prématurité, un retard de croissance pré- et post-natal, un retard de développement (en particulier du langage), une légère déficience intellectuelle, des anomalies cardiaques variables et des anomalies squelettiques mineures (clinodactylie). Une dysmorphie, à savoir&#8239;microcéphalie, sourcils arqués, yeux situés profondément dans les orbites, fentes palpébrales étroites et orientées vers le haut, anomalies des oreilles (oreilles d'implantation basse, fibrochondrome et sinus préauriculaire), ailes du nez hypoplasiques, philtrum lisse, commissures des lèvres orientées vers le bas, lèvre supérieure fine, rétro-/micrognatie et menton pointu, est présente chez la moitié des patients. Certaines délétions très distales, dont celles du gène <i>SMARCB1</i>, sont associées à un risque de tumeurs malignes rhabdoïdes. La plupart des délétions surviennent <i> de novo</i>."},"de":{"name":"Mikrodeletionssyndrom 22q11.2, distal","synonyms":["Del(22)(q11.2)","Monosomie 22q11.2, distal"],"definition":"Das distale 22q11.2-Mikrodeletionssyndrom ist ein seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 22 (außerhalb der kritischen DiGeorge-Region) resultiert. Der Phänotyp ist gekennzeichnet durch Frühgeburtlichkeit, prä- und postnatale Wachstumsretardierung, Entwicklungsverzögerung (insbesondere Sprache), leichte Intelligenzminderung, variable Herzfehler und geringfügige Skelettanomalien (wie Klinodaktylie). Zu den dysmorphen Merkmalen, die bei der Hälfte der Betroffenen auftreten, gehören Mikrozephalie, gewölbte Augenbrauen, tief liegende Augen, schmale aufsteigende Lidachsen, Ohranomalien (tief liegende Ohren, Nägel und Grübchen), hypoplastische Alae nasi, glattes Philtrum, nach unten gedrehter Mund, dünne Oberlippe, Retro-/Mikrognathie und spitzes Kinn. Bei bestimmten sehr distalen Deletionen, die das <i>SMARCB1</i>-Gen umfassen, besteht ein Risiko für die Entwicklung maligner rhabdoider Tumore. Die meisten Deletionen sind <i>de novo</i>."},"es":{"name":"Síndrome de microdeleción terminal 22q11.2","synonyms":["Del(22)(q11.2) terminal","Monosomía terminal 22q11.2"],"definition":"Es un síndrome de anomalía cromosómica poco frecuente, resultante de la deleción parcial del brazo largo del cromosoma 22, fuera de la región crítica de DiGeorge. El fenotipo está caracterizado por prematuridad, retraso del crecimiento pre- y postnatal, retraso psicomotor (en particular del habla), discapacidad intelectual leve, defectos cardíacos variables y anomalías esqueléticas menores (tales como clinodactilia). La mitad de los individuos presentan rasgos dismórficos, incluyendo microcefalia, cejas arqueadas, ojos hundidos, fisuras palpebrales estrechas inclinadas hacia arriba, anomalías de los pabellones auriculares (orejas de implantación baja, apéndices y depresiones puntiformes), alas nasales hipoplásicas, surco nasolabial liso, boca inclinada hacia abajo, labio superior delgado, retro/micrognatia y mentón puntiagudo. En ciertas deleciones muy distales que incluyen el gen <i>SMARCB1</i>, existe el riesgo de desarrollar tumores rabdoides malignos. La mayoría de las deleciones ocurren <i>de novo</i>."},"it":{"name":"Sindrome da microdelezione 22q11.2 distale","synonyms":["Del(22)(q11.2) distale","Monosomia 22q11.2 distale"],"definition":"Si tratta di un'anomalia cromosomica rara, causata dalla delezione parziale del braccio lungo del cromosoma 22, al di fuori della regione critica di DiGeorge. Il quadro clinico comprende la prematurità, il ritardo della crescita pre- e postnatale, il ritardo dello sviluppo (in particolare del linguaggio), la disabilità intellettiva lieve, le cardiopatie e lievi anomalie scheletriche (ad es. la clinodattilia). La metà dei pazienti presenta dismorfismi, che comprendono la microcefalia, le sopracciglia arcuate, gli occhi infossati, le rime palpebrali strette e oblique verso l'alto, le anomalie dell'orecchio (orecchie a basso impianto con appendici e fossette), le ali del naso ipoplastiche, il filtro liscio, la bocca rivolta verso il basso, il labbro superiore sottile, la retro/micrognazia e il mento appuntito. I pazienti che presentano alcune delezioni molto distali, che interessano il gene SMARCB1, sono predisposti ai tumori rabdoidi maligni. La maggior parte delle delezioni origina de novo."},"nl":{"name":"Distale 22q11.2-microdeletiesyndroom","synonyms":["Distale del(22)(q11.2)","Distale monosomie 22q11.2"],"definition":"Een zeldzaam syndroom van chromosomale anomalie als gevolg van partiële deletie van de lange arm van chromosoom 22, buiten de kritieke regio van DiGeorge. Het fenotype wordt gekenmerkt door prematuriteit, pre- en postnatale groeiretardatie, ontwikkelingsachterstand (vooral van spraak), milde intellectuele achterstand, variabele hartdefecten, en geringe skeletanomalieën (zoals clinodactylie). Dysmorfe kenmerken zijn merkbaar bij de helft van de individuen, waaronder microcefalie, gebogen wenkbrauwen, diepliggende ogen, smalle en opwaarts hellende ooglidspleten, afwijkingen van oor (laagstaande oren, aanhangsel, kuiltje), hypoplastische neusvleugels, glad filtrum, naar beneden gekeerde mond, dunne bovenlip, retro-/micrognathie en puntige kin. Bij bepaalde zeer distale deleties met inbegrip van het gen <i>SMARCB1</i> is er een risico op ontwikkeling van maligne rhabdoïde tumor. De meeste deleties ontstaan <i>de novo</i>."},"pt":{"name":"Síndrome de microdeleção distal 22q11.2","synonyms":["Monossomia distal 22q11.2"]},"pl":{"name":"Zespół mikrodelecji dystalnej 22q11.2","synonyms":["Dystalna del(22)(q11.2)","Monosomia dystalna 22q11.2"]},"cs":{"name":"Syndrom distální mikrodelece 22q11.2","synonyms":["Distální del(22)(q11.2)","Distální monozomie 22q11.2"]},"uk":{"name":"Синдром дистальної мікроделеції 22q11.2","synonyms":["Дистальний del(22)(q11.2)","Дистальна моносомія 22q11.2"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>."},"zh":{"name":"22q11.2远端微缺失综合征","synonyms":["22q11.2远端单体"],"definition":"22q11.2远端微缺失综合征是一种罕见的染色体异常综合征，由22号染色体长臂部分缺失引起，表现为早熟、出生前和出生后生长迟缓、发育迟缓(尤其是言语)、轻度智能障碍、多种程度的心脏缺陷和轻微骨骼异常(如指弯曲)。畸形特征包括额头突出，拱形眉毛，眼睛深陷，眼裂狭窄上斜，耳朵畸形，鼻翼发育不良，人中平滑，口下翻，上唇薄，小颌畸形/下颌后缩和尖下巴。对于某些非常远端的缺失，有发展成恶性横纹肌样肿瘤的风险。"},"tr":{"name":"Distal 22q11.2 mikrodelesyon sendromu","synonyms":["Distal del (22) (q11.2)","Distal monozomi 22q11.2"]}},"xrefs":[{"source":"OMIM","code":"611867","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.NY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1057988574"},{"source":"MONDO","code":"0012740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262182,"name":"Partial deletion of the long arm of chromosome 22 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BCR","name":"BCR activator of RhoGEF and GTPase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"1014","ensembl":"ENSG00000186716","omim":"151410","loci":["22q11.23"]},{"symbol":"CRKL","name":"CRK like proto-oncogene, adaptor protein","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"2363","ensembl":"ENSG00000099942","omim":"602007","loci":["22q11.21"]},{"symbol":"MAPK1","name":"mitogen-activated protein kinase 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"6871","ensembl":"ENSG00000100030","omim":"176948","loci":["22q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009795","label":"Branchial fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}