{"orpha":1779,"name":"Dysmorphism-cleft palate-loose skin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, <i>pectus excavatum</i>, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1779/","orphanet_url":"https://www.orpha.net/en/disease/detail/1779","names":{"fr":{"name":"Syndrome de dysmorphie-fente palatine-excès de peau","definition":"Le syndrome de dysmorphie-fente palatine-excès de peau est défaut génétique rare du développement survenant au cours de l'embryogenèse. Il se caractérise par un retard psychomoteur sévère, un déficit intellectuel, des plis cutanés circonférentiels, congénitaux et symétriques au niveau des bras et des jambes, une fente palatine et une dysmorphie faciale (incluant un visage allongé, un front haut, un blépharophimosis, de petites fentes palpébrales, une microphtalmie, une microcornée, des plis épicanthiques, un télécanthus, une microtie, des oreilles orientés vers l'arrière, un large pont nasal, une microstomie et une micrognathie). Les signes additionnels rapportés incluent une petite taille, une microcéphalie, une hypotonie, un pectus excavatum, une scoliose sévère, un scrotum hypoplasique et une surdité mixte."},"de":{"name":"Dysmorphien-Gaumenspalte-lose Haut-Syndrom","definition":"Eine seltene, genetische Entwicklungsstörung während der Embryogenese, die durch schwere psychomotorische Verzögerung, Intelligenzminderung, angeborene, symmetrische, umlaufende Hautfalten an Armen und Beinen, Gaumenspalte und Gesichtsdysmorphismus (längliches Gesicht, hohe Stirn, Blepharophimose, kurze Lidspalten, Mikrophthalmie, Mikrokornea, Epikanthusfalten, Telekanthus, Mikrotie, nach hinten abgewinkelte Ohren, breiter Nasenrücken, Mikrostomie und Mikrognathie) gekennzeichnet ist. Als weitere Merkmale werden Kleinwuchs, Mikrozephalie, Hypotonie, <i>pectus excavatum</i>, schwere Skoliose, hypoplastisches Skrotum und gemischte Schwerhörigkeit berichtet."},"es":{"name":"Síndrome de dismorfia-paladar hendido-piel laxa","definition":"El síndrome de dismorfia-fisura palatina-piel laxa es un defecto genético del desarrollo durante la embriogénesis poco frecuente caracterizado por retraso psicomotor severo, discapacidad intelectual, pliegues cutáneos circunferenciales simétricos y congénitos en los brazos y las piernas, paladar hendido y dismorfia facial (incluyendo rostro alargado, frente alta, blefarofimosis, fisuras palpebrales cortas, microftalmia, microcórnea, pliegues epicánticos, telecanto, microtia, orejas rotadas posteriormente, puente nasal ancho, microstomía y micrognatia). Otras características adicionales descritas incluyen estatura baja, microcefalia, hipotonía, <i> pectus excavatum </ i>, escoliosis grave, escroto hipoplásico y pérdida auditiva mixta."},"it":{"name":"Dismorfismo - palatoschisi - cute ridondante","definition":"La sindrome che associa dismorfismi, palatoschisi e ridondanza della cute è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da grave ritardo psicomotorio, disabilità intellettiva, pliche cutanee simmetriche congenite disposte lungo la circonferenza delle braccia e delle gambe, palatoschisi e dismorfismi facciali (viso allungato, fronte alta, blefarofimosi, rime palpebrali corte, microftalmia, microcornea, epicanto, telecanto, microtia, orecchie retro-ruotate, sella nasale ampia, microstomia e micrognatia). Altri segni associati sono la bassa statura, la microcefalia, l'ipotonia, il pectus excavatum, la scoliosi grave, l'ipoplasia dello scroto e la sordità di tipo misto."},"nl":{"name":"Dysmorfie - gespleten verhemelte - slappe huid","definition":"Dysmorfie - gespleten verhemelte - slappe huid-syndroom is een zeldzaam genetisch ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door ernstige psychomotorische achterstand, intellectuele achterstand, congenitale symmetrische huidplooien in de omtrekrichting op armen en benen, gespleten verhemelte, en faciale dysmorfie (incl. lang gelaat, hoog voorhoofd, blefarofimose, korte ooglidspleten, microftalmie, microcornea, epicanthusplooien, telecanthus, microtie, naar achter gedraaide oren, brede neusbrug, microstomie en micrognathie). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer een kleine gestalte, microcefalie, hypotonie, <i>pectus excavatum</i> (trechterborst), ernstige scoliose, hypoplastisch scrotum, en gemengd gehoorverlies."},"pt":{"name":"Síndrome de dismorfia-fenda palatina-pele laxa"},"pl":{"name":"Dysmorfia - rozszczep podniebienia - luźna skóra"},"cs":{"name":"Syndrom zahrnující dysmorfismus, rozštěp patra a volnou kůži"},"uk":{"name":"Синдром дизморфізму-розщілини піднебіння-вялої шкіри","definition":"Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, <i>pectus excavatum</i>, severe scoliosis, hypoplastic scrotum, and mixed hearing loss."},"zh":{"name":"外貌畸形-腭裂-皮肤松弛综合征"},"tr":{"name":"Dismorfizm-yarık damak-gevşek deri sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706366","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null}]}}