{"orpha":357175,"name":"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357175/","orphanet_url":"https://www.orpha.net/en/disease/detail/357175","names":{"fr":{"name":"Syndrome d'ulna courte-dysmorphie-hypotonie-déficience intellectuelle","synonyms":["Syndrome de cubitus court-dysmorphie-hypotonie-déficience intellectuelle"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard de développement global léger à sévère, une déficience intellectuelle sévère, une hypotonie légère, un ulna court, un hirsutisme affectant le visage et les membres, une scoliose légère et une dysmorphie faciale, à savoir front large et haut, synophridie, hypertélorisme, hypoplasie malaire, nez large avec des ailes épaisses, petites oreilles d'implantation basse, philtrum long, vermillon de la lèvre supérieure fin et celui de la lèvre inférieure éversé."},"de":{"name":"Kurze Ulna-dysmorphe Gesichtszüge-Hypotonie-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de cúbito corto-dismorfia-hipotonía-discapacidad intelectual","definition":"El síndrome de cúbito corto - dismorfia - hipotonía - discapacidad intelectual es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, caracterizado por retraso global del desarrollo de leve a grave, discapacidad intelectual grave, hipotonía leve, cúbito corto, hirsutismo facial y de las extremidades, leve escoliosis y dismorfia facial, en particular, frente alta y ancha, sinofridia, hipertelorismo, hipoplasia malar, nariz ancha con alas nasales gruesas, orejas pequeñas de baja implantación, surco nasolabial largo, labio superior delgado y bermellón del labio inferior evertido."},"it":{"name":"Sindrome ulna corta, dismorfismi, ipotonia e disabilità intellettiva","definition":"La sindrome che associa l'accorciamento dell'ulna, i dismorfismi, l'ipotonia e la disabilità intellettiva è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale lieve-grave, disabilità intellettiva grave, lieve ipotonia, ulna corta, irsutismo del viso e degli arti, minima scoliosi e dismorfismi facciali (fronte alta e ampia, sinofria, ipertelorismo, ipoplasia malare, naso ampio con ispessimento delle ali, orecchie piccole a basso impianto, filtro lungo, labbro superiore sottile e porzione mucosa del labbro inferiore anteversa."},"nl":{"name":"Korte ulna - dysmorfie - hypotonie - intellectuele achterstand-syndroom","definition":"Korte ulna - dysmorfie - hypotonie - intellectuele achterstand-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door milde tot ernstige algehele ontwikkelingsachterstand, ernstige intellectuele achterstand, milde hypotonie, een korte ellepijp, hirsutisme van het gelaat en de ledematen, minimale scoliose, en faciale dysmorfie, vooral met een groot en breed voorhoofd, synophrys, hypertelorisme, hypoplasie van de jukbeenderen, brede neus met dikke neusvleugels, laagstaande en kleine oren, lang filtrum, dunne bovenlip en eversie van het vermiljoen van de onderlip."},"pt":{"name":"Síndrome de encurtamento da ulna-dismorfismo-hipotonia-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół krótka kość łokciowa - dysmorfia - hipotonia - niepełnosprawność intelektualna","definition":"*Zespół krótka kość łokciowa - dysmorfia - hipotonia - niepełnosprawność intelektualna jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się łagodnym lub ciężkim całościowym opóźnieniem rozwoju, ciężką niepełnosprawnością intelektualną, łagodną hipotonią, skróceniem kości łokciowych, hirsutyzmem twarzy i kończyn, skoliozą i dysmorfią twarzy, zwłaszcza obserwuje się wysokie, szerokie czoło, zrośnięte brwi, hiperteloryzm, hipoplazję kości jarzmowej, szeroki nos z grubymi skrzydełkami nosa, nisko osadzone, małe uszy, długą rynienkę podnosową, cienką górną wargę i wywiniętą czerwień dolnej wargi."},"cs":{"name":"Syndrom zahrnující krátkou ulnu, dysmorfismus, hypotonii a mentální retardaci"},"uk":{"name":"Синдром короткої ліктьової кістки-дисморфізму-гіпотонії-інтелектуальної недостатності","definition":"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion."},"zh":{"name":"短尺骨-先天性畸形-肌张力减退-智力障碍综合征","definition":"短尺骨-畸形-肌张力低下-智力障碍综合征是一种罕见的遗传性多发性先天畸形/畸形综合征，其特征是全面发育迟缓、严重智力障碍、轻度肌张力低下、尺骨短小、面部和四肢多毛、轻度脊柱侧弯和面部畸形（主要表现为又高又宽的额头、连眉、眼距过宽、颧骨发育不全、宽鼻伴厚鼻翼、低位小耳、长人中、薄上唇和下唇缘外翻）。"},"tr":{"name":"Kısa ulna-dismorfizm-hipotoni-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"615162","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014067","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750957","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":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20950399[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-29","source":"20950399[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null}]}}