{"orpha":1778,"name":"Facial dysmorphism-shawl scrotum-joint laxity syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Seaver-Cassidy syndrome"],"definition":"Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1778/","orphanet_url":"https://www.orpha.net/en/disease/detail/1778","names":{"fr":{"name":"Syndrome de dysmorphie faciale-scrotum en châle-hyperlaxité ligamentaire","synonyms":["Syndrome de Seaver-Cassidy"],"definition":"Le syndrome de dysmorphie faciale-scrotum en châle-hyperlaxité ligamentaire est caractérisé par une dysmorphie (hypertélorisme, télécanthus, fentes palpébrales anti-mongoloïdes, ptosis, hypoplasie malaire, arête nasale large, lèvre supérieure fine, philtrum lisse, et oreilles proéminentes et bas implantées) associées à des anomalies des articulations (genu valgum ou cubitus valgus, hyperlaxité articulaire...). Il a été décrit chez deux patients (une mère et son fils). Le garçon présentait également un scrotum hypoplasique en châle et une cryptorchidie, et la mère avait un léger déficit intellectuel."},"de":{"name":"Gesichtsdysmorphie-Schalskrotum-Gelenkschlaffheit-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch faziale Dysmorphien (Hypertelorismus, Telekanthus, antimongoloide Lidachsen, Ptose, Jochbein-Hypoplasie, breiter Nasenrücken, schmale Oberlippe, flaches Philtrum, tiefsitzende und abstehende Ohren) und Gelenkanomalien (Genu valgum oder Cubitus valgus, überstreckbare Gelenke u.a.)."},"es":{"name":"Síndrome de dismorfia facial-escroto en alforja-hiperlaxitud ligamentaria","synonyms":["Síndrome de Seaver-Cassidy"],"definition":"Es un síndrome caracterizado por dismorfia facial (hipertelorismo, telecanto, fisuras palpebrales descendentes, ptosis, hipoplasia malar, puente nasal ancho, labio superior delgado, filtrum liso y orejas prominentes de implantación baja) asociado a otras anomalías (<i>genu valgum</i> o <i>cubitus valgus</i>, articulaciones hiperextensibles, etc.). Se ha descrito en dos pacientes (una madre y su hijo). El niño también presentaba escroto hipoplásico en chal y criptorquidia, y la madre manifestaba déficit intelectual leve."},"it":{"name":"Dismorfismi facciali - scroto a scialle - iperlassità legamentosa","synonyms":["Sindrome di Seaver-Cassidy"]},"nl":{"name":"Faciale dysmorfie - sjaalscrotum - gewrichtslaxiteit-syndroom","synonyms":["Syndroom van Seaver-Cassidy"],"definition":"Faciale dysmorfie - sjaalscrotum - gewrichtslaxiteit-syndroom wordt gekenmerkt door faciale dysmorfie (hypertelorisme, telecanthus, schuin naar beneden hellende ooglidspleten, ptosis, hypoplasie van jukbeenderen, brede neusbrug, dunne bovenlip, vlak filtrum, en laagstaande en prominente oren), geassocieerd met gewrichtsanomalieën (genu valgum (X-benen) of cubitus valgus, hypermobiele gewrichten, en andere). Het werd beschreven bij twee patiënten (een moeder en haar zoon). De jongen had ook hypoplastisch sjaalscrotum en cryptorchisme, en de moeder had milde intellectuele achterstand."},"pt":{"name":"Síndrome de dismorfia facial-escroto em xaile-hiperlaxidão articular","synonyms":["Síndrome Seaver-Cassidy"]},"pl":{"name":"Dysmorfia twarzy - shawl scrotum - luźność stawów","synonyms":["Zespół Seavera i Cassidy"]},"cs":{"name":"Syndrom zahrnující faciální dysmorfismus, šálovité skrotum a uvolněné klouby","synonyms":["Seaverův-Cassidyho syndrom","Seaver-Cassidyho syndrom"]},"uk":{"name":"Синдром дисморфізму обличчя-шалеподібної мошонки-розхитаності суглобів","synonyms":["Синдром Сівера-Кессіді"],"definition":"Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit."},"zh":{"name":"面部畸形-披巾阴囊-关节松弛综合征","synonyms":["Seaver-Cassidy 综合征"]},"tr":{"name":"Yüz dismorfizmi-ventral skrotal katlanma-eklem gevşekliği sendromu","synonyms":["Seaver-Cassidy sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015781","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931522","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4778","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1776627[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1776627[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null}]}}