{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"],"definition":"Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284139/","orphanet_url":"https://www.orpha.net/en/disease/detail/284139","names":{"fr":{"name":"Syndrome de Larsen-like de type B3GAT3","synonyms":["Syndrome de dislocations articulaires multiples-petite taille-dysmorphie craniofaciale-anomalies cardiaques congénitales"],"definition":"Le syndrome de Larsen-like de type B3GAT3 est une dysplasie osseuse primaire génétique rare. Il se caractérise par une laxité, des luxations et des contractures des articulations, une petite taille, des déformations des pieds (ex. pieds bots), une pointe des doigts et des orteils larges, un cou court, une dysmorphie faciale (hypertélorisme, fentes palpébrales obliques en bas et en dehors, nez retroussé, narines antéversées, palais ogival) et diverses malformations cardiaques. La présence de multiples fractures, d'une ostéopénie, d'une arachnodactylie et d'une sclère bleue est associée à une maladie sévère. Un large spectre de manifestations additionnelles a aussi été rapporté, incluant une scoliose, une synostose radio-ulnaire, un léger retard de développement, associé à divers troubles oculaires (glaucome, amblyopie, hyperopie, astigmatisme, ptosis)."},"de":{"name":"Larsen-ähnliches Syndrom, B3GAT3 Typ","synonyms":["Multiplen Gelenkdislokationen - Kleinwuchs - kraniofaziale Dysmorphien - kongenitaler Herzfehler"],"definition":"Das Larsen-ähnliche Syndrom vom Typ B3GAT3 ist eine seltene, genetisch bedingte, primäre Knochendysplasie, die durch Laxität, Dislokationen und Kontrakturen der Gelenke, Kleinwuchs, Fußdeformitäten (z. B. Klumpfüße), breite Finger- und Zehenspitzen, kurzen Hals, dysmorphe Gesichtszüge (Hypertelorismus, nach unten geneigte Lidspalten, nach oben gekehrte Nase mit antevertierten Nasenflügeln, hochgewölbter Gaumen) und verschiedene kardiale Fehlbildungen gekennzeichnet ist. Eine schwere Erkrankung ist mit multiplen Frakturen, Osteopenie, Arachnodaktylie und blauen Skleren verbunden. Ein breites Spektrum an zusätzlichen Merkmalen, einschließlich Skoliose, Radio-Ulnar-Synostose, leichte Entwicklungsverzögerung und verschiedene Augenstörungen (Glaukom, Amblyopie, Hyperopie, Astigmatismus, Ptosis), werden ebenfalls berichtet."},"es":{"name":"Síndrome similar al Larsen, tipo B3GAT3","synonyms":["Luxaciones múltiples-talla baja-dismorfia craneofacial-defectos congénitos del corazón","Síndrome de Larsen-like, tipo B3GAT3"],"definition":"El síndrome similar a Larsen tipo B3GAT3, es una displasia ósea primaria, genética, y poco frecuente, caracterizada por laxitud, dislocaciones y contracturas de las articulaciones, baja estatura, deformidades de los pies (p.ej. pie zambo), puntas de los dedos de manos y pies anchas, cuello corto, rasgos faciales dismórficos (hipertelorismo, fisuras palpebrales inclinadas hacia abajo, nariz respingona con fosas nasales en anteversión, paladar alto y arqueado) y diversas malformaciones cardíacas. La forma grave de la enfermedad se caracteriza por múltiples fracturas, osteopenia, aracnodactilia y escleras azules. También se ha descrito un amplio espectro de anomalías adicionales, que incluye escoliosis, sinostosis radio-ulnar, leve retraso del desarrollo, y diversos trastornos oculares (glaucoma, ambliopía, hiperopia, astigmatismo, ptosis palpebral)."},"it":{"name":"Sindrome Larsen-simile, tipo B3GAT3","synonyms":["Dislocazioni articolari multiple - bassa statura - dismorfismi craniofacciali - cardiopatie congenite"],"definition":"La sindrome Larsen-simile tipo B3GAT3 è una displasia scheletrica primitiva genetica rara caratterizzata da lassità, dislocazione e contratture delle articolazioni, bassa statura, deformità dei piedi (piedi tali), allargamento delle estremità delle dita delle mani e dei piedi, collo corto, dismorfismi facciali (ipertelorismo, rime palpebrali rivolte verso il basso, naso con punta rivolta verso l'alto e narici anteverse, palato ogivale) e cardiopatie. La forma grave della malattia si associa a fratture multiple, osteopenia, aracnodattilia e sclere blu. Possono essere presenti altri segni clinici, come la scoliosi, la sinostosi radio-ulnare, un lieve ritardo dello sviluppo e alterazioni oculari (glaucoma, ambliopia, iperopia, astigmatismo, ptosi)."},"nl":{"name":"Larsen-achtig syndroom, B3GAT3-type","synonyms":["Multipele gewrichtsluxaties - kleine gestalte - craniofaciale dysmorfie - congenitale hartdefecten-syndroom"],"definition":"Larsen-achtig syndroom, B3GAT3 type is een zeldzame, genetische, primaire botdysplasie die gekarakteriseerd wordt door laxiteit, dislocaties en contracturen van de gewrichten, kleine gestalte, voetmisvormingen (e.g. klompvoet), brede vinger- en teentoppen, korte hals, dysmorfe gelaatskenmerken (hypertelorisme, schuin aflopende ooglidspleten, wipneus met anteversie van de neusgaten, hoge verhemelteboog) en verscheidene hartmalformaties. De ernstige vorm van de ziekte is geassocieerd met meervoudige breuken, osteopenie, arachnodactylie en blauw oogwit. Een breed spectrum van bijkomende kenmerken, waaronder scoliose, radio-ulnaire synostose, milde ontwikkelingsachterstand en verscheidene oogaandoeningen (glaucoom, amblyopie, hyperopie, astigmatisme, ptose) wordt ook gerapporteerd."},"pt":{"name":"Síndrome de Larsen-like, tipo B3GAT3"},"pl":{"name":"Zespół podobny do zespołu Larsena, typ B3GAT3","synonyms":["Wielokrotne przemieszczenia stawów - niski wzrost - dysmorfia czaszkowo-twarzowa - wrodzone wady serca"]},"cs":{"name":"Larsen-like syndrom, typ B3GAT3","synonyms":["Syndrom zahrnující mnohočetné dislokace kloubů, malý vzrůst, kraniofaciální dysmorfismus a vrozené srdeční vady"]},"uk":{"name":"Синдром Ларсена, тип B3GAT3","synonyms":["Множинні вивихи суглобів - низький зріст - черепно-лицьовий дисморфізм - синдром вроджених вад серця"],"definition":"Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."},"zh":{"name":"B3GAT3型Larsen样综合征","synonyms":["多发性关节脱位-矮小-颅面畸形-先天性心脏病综合征"],"definition":"Larsen样综合征，B3GAT3型是一种罕见的遗传性原发性骨发育不良，其特征是关节松弛、脱臼和挛缩、身材矮小、足部畸形（如畸形足）、指尖和脚趾尖宽、颈部短、面部畸形（眼距过宽、眼裂向下倾斜，鼻上翘伴鼻孔前倾，高颚弓）和各种心脏畸形。严重的疾病与多发性骨折、骨质减少、细长指(趾)和蓝巩膜有关。此外还报道了许多其他特征，包括脊柱侧弯、桡尺骨性愈合、轻度发育迟缓和各种眼病（青光眼、弱视、远视、散光、上睑下垂）等。"},"tr":{"name":"Larsen-benzeri sendrom, B3GAT3 tipi","synonyms":["Çoklu eklem çıkıkları-kısa boy-kraniyofasiyal dismorfizm-doğumsal kalp defektleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"245600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706575","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309450,"name":"Disorder of O-xylosylglycan synthesis","classifications":[150,156]},{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"B3GAT3","name":"beta-1,3-glucuronyltransferase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21763480[PMID]","hgnc":"923","ensembl":"ENSG00000149541","omim":"606374","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"25893793[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25893793[PMID]"}],"phenotypes":null}