{"orpha":466943,"name":"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DESSH","Desanto-Shinawi syndrome"],"definition":"A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466943/","orphanet_url":"https://www.orpha.net/en/disease/detail/466943","names":{"fr":{"name":"Syndrome de dysmorphie faciale-retard de développement-troubles du comportement associé à WAC","synonyms":["Syndrome Desanto-Shinawi"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par plusieurs traits dysmorphiques, une hypotonie, un retard de développement, une déficience intellectuelle, des troubles du comportement, des troubles de la vision et de l'audition, une constipation et des difficultés à s'alimenter. La dysmorphie se traduit couramment par des traits grossiers de visage, un large front, une synophridie, des sourcils fournis, des yeux profondément situés dans les orbites, des fentes palpébrales inclinées vers le bas, un épicanthus, un pont nasal déprimé, une pointe nasale bulbeuse, des oreilles inclinées en arrière, des joues pleines, une lèvre supérieure fine, des mamelons invaginés et un hirsutisme. Les troubles du comportement sont dominés par un trouble du déficit de l'attention avec ou sans hyperactivité (TDAH), mais une anxiété, des crises d'agressivité et des troubles du spectre autistique peuvent également être observés."},"de":{"name":"WAC-assoziiertes Syndrom der Gesichtsdysmorphie mit Entwicklungsverzögerung und Verhaltensstörungen","synonyms":["DESSH","Desanto-Shinawi-Syndrom"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch verschiedene dysmorphe Merkmale, Hypotonie, Entwicklungsverzögerung, intellektuelle Beeinträchtigung, Verhaltensstörungen, Seh- und Hörstörungen, Verstopfung und Fütterungsprobleme gekennzeichnet ist. Zu den häufigen dysmorphen Merkmalen gehören grobe Gesichtszüge, eine breite Stirn, Synophrys, buschige Augenbrauen, tief liegende Augen, schräg abwärts verlaufende Lidspalten, Epikanthus, ein vertiefter Nasenrücken, eine knollige Nasenspitze, nach hinten gedrehte Ohren, volle Wangen, eine dünne Oberlippe, invertierte Brustwarzen und Hirsutismus. Verhaltensprobleme werden in der Regel durch ADHS dominiert, aber auch Angstzustände, aggressive Ausbrüche und autistische Züge können auftreten."},"es":{"name":"Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta asociado al gen WAC","synonyms":["Síndrome de Desanto-Shinawi"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente de origen genético caracterizada por rasgos dismórficos variables, hipotonía, retraso psicomotor, discapacidad intelectual, trastornos de conducta, afectación visual y auditiva, estreñimiento y dificultades de alimentación. Los rasgos dismórficos frecuentes incluyen cara tosca, frente ancha, sinofridia, cejas tupidas, ojos hundidos, fisuras palpebrales de inclinación descendente, epicanto, puente nasal deprimido, punta nasal bulbosa, orejas rotadas posteriormente, mejillas prominentes, labio superior fino, mamilas invertidas e hirsutismo. Los trastornos de conducta suelen estar dominados por el TDAH, aunque los pacientes también pueden manifestar ansiedad, brotes de agresividad y rasgos autistas."},"it":{"name":"Sindrome dismorfismi facciali-ritardo dello sviluppo-anomalie del comportamento correlata a WAC","synonyms":["DESSH","Sindrome di Desanto-Shinawi"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da dismorfismi facciali, ipotonia, ritardo dello sviluppo, disabilità intellettiva, problemi comportamentali, anomalie della vista e dell'udito, costipazione e difficoltà di alimentazione. I dismorfismi più comuni sono l'aspetto grossolano del viso, la fronte ampia, la sinofria, le sopracciglia folte, gli occhi infossati, le rime palpebrali oblique verso il basso, l'epicanto, la sella nasale infossata, la punta del naso globosa, le orecchie ruotate posteriormente, le guance paffute, il labbro superiore sottile, i capezzoli introflessi e l'irsutismo. Il problema comportamentale più comune è l'ADHA, ma i pazienti possono presentare anche ansia, crisi di aggressività e tratti autistici."},"nl":{"name":"WAC-gerelateerd faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom","synonyms":["DESSH","Syndroom van Desanto-Shinawi"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekarakteriseerd door meerdere dysmorfe kenmerken, hypotonie, ontwikkelingsachterstand, intellectuele beperking, gedragsproblemen, visuele en auditieve afwijkingen, constipatie, en voedingsproblemen. Gangbare dysmorfe kenmerken zijn onder meer grof aangezicht, breed voorhoofd, synophrys, volle wenkbrauwen, diepliggende ogen, schuin naar beneden hellende ooglidspleten, epicanthus, ingezakte neusbrug, bolle neuspunt, naar achteren gedraaide oren, volle wangen, dunne bovenlip, inversie van tepels, en hirsutisme. Gedragsproblemen omvatten voornamelijk ADHD, maar angst, agressieve uitbarstingen en autistische kenmerken kunnen eveneens aanwezig zijn."},"pt":{"name":"Síndrome de dismorfia facial-perturbação do desenvolvimento-perturbação comportamental WAC-relacionada","synonyms":["DESSH","Síndrome Desanto-Shinawi"]},"pl":{"name":"Zespół dysmorfii twarzy, opóźnienia w rozwoju i zaburzeń zachowania związany z WAC","synonyms":["DESSH","Desanto-Shinawi syndrome"]},"cs":{"name":"Syndrom WAC asociovaného faciálního dysmorfismu, opožděného vývoje a behaviorální abnormalit","synonyms":["DESSH","Desanto-Shinawi syndrome"]},"uk":{"name":"Синдром дисморфізму обличчя-затримки розвитку-поведінкових відхилень, повязаного з WAC","synonyms":["Синдром Десанто-Шинаві","DESSH"],"definition":"A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present."},"zh":{"name":"WAC相关面部畸形-发育迟缓-行为异常综合征","definition":"一种罕见的、遗传性的、综合征性的智力残疾，其特征是有一些畸形特征、肌张力低下、发育迟缓、智力障碍、行为问题、视觉和听觉异常、便秘和喂养困难。常见的畸形特征包括面容粗糙、前额宽大、突眼、眉毛浓密、眼球深陷、向下眼睑裂开、内眦赘皮、鼻梁凹陷、鼻尖隆起、耳朵后旋、脸颊丰满、上唇薄、乳头内翻和多毛症。行为问题往往以多动症为主，但也可能出现焦虑、攻击性暴躁和自闭症特征。"},"tr":{"name":"WAC-ilişkili fasiyal dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu"}},"xrefs":[{"source":"OMIM","code":"616708","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225239","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]}],"children":[{"orpha":284169,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","type":"Clinical subtype"},{"orpha":466950,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"WAC","name":"WW domain containing adaptor with coiled-coil","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26264232[PMID]","hgnc":"17327","ensembl":"ENSG00000095787","omim":"615049","loci":["10p12.1"],"via":{"orpha":466950,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"}},{"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"],"via":{"orpha":284169,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"}}],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"27119754[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27119754[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-06","source":"29190062[PMID]_26264232[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","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:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030190","label":"Oral motor hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000321","label":"Square face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011822","label":"Broad chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","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:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030863","label":"Nasal flaring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000395","label":"Prominent antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100581","label":"Dilatation of renal calices","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Very rare (<4-1%)","criteria":null}]}}