{"orpha":284169,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["10p12p11 microdeletion syndrome","Del(10)(p11.21p12.31)","Deletion 10p11.21p12.31","Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion","Monosomy 10p11.21p12.31"],"definition":"A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284169/","orphanet_url":"https://www.orpha.net/en/disease/detail/284169","names":{"fr":{"name":"Syndrome de dysmorphie faciale-retard de développement-troubles du comportement dû à une microdélétion 10p11.21p12.31","synonyms":["Del(10)(p11.21p12.31)","Délétion 10p11.21p12.31","Monosomie 10p11.21p12.31","Syndrome Desanto-Shinawi dû à une microdélétion 10p11.21p12.31","Syndrome de microdélétion 10p12p11"],"definition":"Déficience intellectuelle syndromique rare, d'origine génétique, caractérisée par un retard de développement, une hypotonie, un retard de parole, une déficience intellectuelle légère à modérée, des troubles du comportement (autisme, agressivité, hyperactivité) et une dysmorphie faciale à type de synophridie ou de sourcils épais, de yeux profondément situés dans les orbites, de pointe nasale bulbeuse et de joues pleines. Par ailleurs, des malformations congénitales du coeur et du cerveau, ainsi qu'une déficience visuelle et auditive sont courantes."},"de":{"name":"Gesichtsdysmorphie-Entwicklungsverzögerung-Verhaltensstörungen-Syndrom durch Mikrodeletionssyndrom 10p11.21p12.31","synonyms":["Del(10)(p11.21p12.31)","Deletion 10p11.21p12.31","Mikrodeletionssyndrom 10p12p11","Monosomie 10p11.21p12.31"]},"es":{"name":"Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta por microdeleción 10p11.21p12.31","synonyms":["Del(10)(p11.21p12.31)","Deleción 10p11.21p12.31","Monosomía 10p11.21p12.31","Síndrome de microdeleción 10p12p11"],"definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por retraso del desarrollo, hipotonía, retraso en el habla, discapacidad intelectual de leve a moderada, trastornos de conducta (autista, agresiva, hiperactiva) y dismorfia facial, incluyendo sinofris o cejas gruesas, ojos hundidos, punta nasal bulbosa y mejillas prominentes. También es común la presencia de anomalías congénitas cardíacas y cerebrales, así como de discapacidad visual y auditiva."},"it":{"name":"Sindrome da dismorfismi facciali, ritardo dello sviluppo, anomalie del comportamento, da microdelezione 10p11.21p12.31","definition":"La sindrome da dismorfismi facciali, ritardo dello sviluppo, anomalie del comportamento, causata dalla microdelezione 10p11.21p12.31, è una forma genetica rara di disabilità intellettiva sindromica, caratterizzata da ritardo dello sviluppo, ipotonia, ritardo del linguaggio, disabilità intellettiva lieve o moderata, anomalie del comportamento (autistico, aggressivo, iperattivo) e dismorfismi facciali (sinofria o sopracciglia folte, occhi infossati, punta del naso globosa e guance paffute). Spesso i pazienti presentano cardiopatie, anomalie cerebrali e compromissione dell'udito e della vista."},"nl":{"name":"Faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom door 10p11.21p12.31-microdeletie","synonyms":["10p12p11-microdeletiesyndroom","Deletie 10p11.21p12.31","Monosomie 10p11.21p12.31","del(10)(p11.21p12.31)"],"definition":"Faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom door microdeletie van 10p11.21p12.31 is een zeldzame, genetische, syndromale intellectuele beperking die gekarakteriseerd wordt door ontwikkelingsachterstand, hypotonie, spraakachterstand, milde tot matige intellectuele achterstand, abnormaal gedrag (autistisch, agressief, hyperactief) en dysmorfe gelaatskenmerken waaronder synophrys of dikke wenkbrauwen, diepliggende ogen, bolle neuspunt en volle wangen. Congenitale hart en hersenanomalieën, slechtziendheid en slechthorendheid zijn ook gangbaar."},"pt":{"name":"Síndrome de dismorfia facial-perturbação do desenvolvimento-anomalias do comportamento por microdeleção 10p11.21p12.31","synonyms":["Del(10)(p11.21p12.31)","Deleção 10p11.21p12.31","Monossomia 10p11.21p12.31","Síndrome de microdeleção 10p12p11"]},"pl":{"name":"Zespół dysmorfii twarzy, opóźnienia rozwoju i zaburzeń zachowania spowodowany mikrodelecją 10p11.21p12.31","synonyms":["Del(10)(p11.21p12.31)","Delecja 10p11.21p12.31","Monosomia 10p11.21p12.31","Zespół mikrodelecji 10p12p11"]},"cs":{"name":"Mikrodeleční syndrom 10p11.21p12.31","synonyms":["Syndrom mikrodelece 10p12p11","Del(10)(p11.21p12.31)","Delece 10p11.21p12.31","Monozomie 10p11.21p12.31"]},"uk":{"name":"Синдром дисморфізму обличчя - затримки розвитку - поведінкових аномалій внаслідок мікроделеції 10p11.21p12.31","synonyms":["Синдром мікроделеції 10p12p11","Del(10)(p11.21p12.31)","Делеція 10p11.21p12.31","Синдром Десанто-Шинаві внаслідок мікроделеції 10p11.21p12.31","Моносомія 10p11.21p12.31"],"definition":"A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common."},"zh":{"name":"10p11.21p12.31微缺失所致面部畸形-发育迟缓-行为异常综合征","synonyms":["10p12p11微缺失综合征"],"definition":"面部畸形-发育迟缓-行为异常综合征是由10p11.21p12.31微缺失引起的一种罕见的遗传性智力残疾综合征，其特征为发育迟缓、肌张力低下、言语发育迟缓、轻度至中度智力残疾、行为异常（孤独症、攻击性、多动）和面部畸形，包括一字眉或浓眉、眼深凹、蒜头鼻和脸颊饱满。也常见先天性心脑异常、视力和听力障碍。"},"tr":{"name":"10p11.21p12.31 mikrodelesyonuna bağlı yüz dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu","synonyms":["Del(10)(p11.21p12.31)","Delesyon 10p11.21p12.31","Monozomi 10p11.21p12.31","10p12p11 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"616708","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.A1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"854527338"},{"source":"MONDO","code":"0017283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261938,"name":"Partial deletion of the short arm of chromosome 10 syndrome","classifications":[147,156]},{"orpha":466943,"name":"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"WAC","name":"WW domain containing adaptor with coiled-coil","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21522184[PMID]_26264232[PMID]","hgnc":"17327","ensembl":"ENSG00000095787","omim":"615049","loci":["10p12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29663678[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"29663678[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-15","source":"21522184[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010800","label":"Absent cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}