{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["B3GALT6-related spEDS","B3GALT6-related spondylodysplastic EDS","Beta3GalT6-deficient EDS","Ehlers-Danlos syndrome progeroid type 2","spEDS-B3GALT6"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B3GALT6</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-536467/","orphanet_url":"https://www.orpha.net/en/disease/detail/536467","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos spondylodysplasique lié à B3GALT6","synonyms":["SED par déficit en bêta-1,3-galactosyltransférase 6","SEDsp lié à B3GALT6","Syndrome d'Ehlers-Danlos progéroïde type 2","spEDS-B3GALT6"],"definition":"Forme de syndrome d'Ehlers-Danlos spondylodysplasique due à des variants de <i>B3GALT6</i>, caractérisée par une petite taille, une hypotonie musculaire de degré variable, une hypermobilité articulaire, en particulier des mains, un varus de membres et une cyphoscoliose progressive, de forme congénitale ou d'apparition précoce. Parmi les autres signes, on peut citer des caractéristiques craniofaciales typiques (front proéminent, cheveux clairsemés, hypoplasie de l'étage moyen du visage, sclérotiques bleues, proptose et anomalies dentaires), une peau hyperextensible, douce, fine, translucide, d'aspect « pâteux », un retard de développement moteur et/ou cognitif, des signes caractéristiques visibles à la radiographie (dysplasie spondylo-épimétaphysaire, platyspondylie, protrusion du corps vertébral antérieur, os iliaque court, malalignement du coude et ostéoporose généralisée), des contractures articulaires et un anévrisme de l'aorte ascendante."},"de":{"name":"Ehlers-Danlos-Syndrom, spondylodysplastischer Typ, B3GALT6-assoziiert","synonyms":["B3GALT6-CDG","B3GALT6-assoziiertes spEDS","Beta3GalT6-defizientes EDS","Ehlers-Danlos-Syndrom, progeroider Typ 2","spEDS-B3GALT6"],"definition":"Ein Subtyp des spondylodysplastischen Ehlers-Danlos-Syndroms (EDS), der auf Varianten in <i>B3GALT6</i> zurückzuführen ist und durch Kleinwuchs, unterschiedlich ausgeprägte Muskelhypotonie, Gelenkhypermobilität, insbesondere der Hände, Beugung der Gliedmaßen und angeborene oder früh einsetzende, progressive Kyphoskoliose gekennzeichnet ist. Weitere Merkmale sind die typische kraniofaziale Gestalt (prominente Stirn, spärliche Behaarung, Hypoplasie des Mittelgesichts, blaue Skleren, Proptosis und abnormes Gebiss), hyperextensible, weiche, dünne, durchscheinende und teigige Haut, verzögerte motorische und/oder kognitive Entwicklung, charakteristische Röntgenbefunde (spondyloepimetaphyseale Dysplasie, Platyspondylie, vorderer Schnabel des Wirbelkörpers, kurzes Os ilium, Ellbogenfehlstellung und generalisierte Osteoporose), Gelenkkontrakturen und aufsteigendes Aortenaneurysma."},"es":{"name":"Síndrome de Ehlers-Danlos espondilodisplásico asociado a B3GALT6","synonyms":["SED deficiente en Beta3GalT6","Síndrome de Ehlers-Danlos tipo progeroide 2"],"definition":"Es una forma del síndrome de Ehlers-Danlos espondilodisplásico causada por variantes del gen <B3GALT6 </i> y caracterizada por talla baja, hipotonía muscular de grado variable, hipermovilidad articular, especialmente de las manos, e incurvación de las extremidades y cifoescoliosis progresiva congénita o de inicio precoz. Otros hallazgos adicionales incluyen rasgos craneofaciales distintivos (frente prominente, cabello escaso, hipoplasia mediofacial, escleróticas azules, proptosis y dentición anómala), piel hiperextensible, fina, translúcida, suave y aterciopelada, retraso del desarrollo motor y/o cognitivo, hallazgos radiográficos característicos (displasia espondiloepimetafisaria, platispondilia, ''pico de loro'' del cuerpo vertebral y hueso iliaco corto, desalineación del codo y osteoporosis generalizada), contracturas articulares y aneurisma de la aorta ascendente."},"it":{"name":"Sindrome di Ehlers-Danlos spondilolodisplastica correlata a B3GALT6","synonyms":["EDS da deficit di Beta3GalT6","EDS spondilodisplastica correlata a B3GALT6","Sindrome di Ehlers-Danlos progeroide tipo 2","spEDS correlata a B3GALT6","spEDS-B3GALT6"],"definition":"Si tratta di una forma della sindrome di Ehlers-Danlos (EDS) spondilodisplastica causata dalle mutazioni del gene <B3GALT6</i>, caratterizzata da bassa statura, ipotonia muscolare di grado variabile, ipermobilità articolare, in particolare delle mani, incurvamento degli arti e cifoscoliosi progressiva congenita o ad esordio precoce. I pazienti possono presentare anche dismorfismi craniofacciali (fronte prominente, capelli radi, ipoplasia medio-facciale, sclere blu, proptosi e anomalie della dentizione), cute iperelastica, morbida, sottile, traslucida e flaccida, ritardo dello sviluppo motorio e/o cognitivo, anomalie radiografiche caratteristiche (displasia spondiloepimetafisaria, platispondilia, forma a becco della porzione anteriore dei corpi vertebrali, ilei corti, disallineamento del gomito e osteoporosi generalizzata), contratture articolari e aneurisma dell'aorta ascendente."},"nl":{"name":"B3GALT6-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos","synonyms":["B3GALT6-gerelateerd spEDS","B3GALT6-gerelateerd spondylodysplastisch EDS","Bèta3GalT6-deficiënt EDS","Syndroom van Ehlers-Danlos, progeroïd-type 2","spEDS-B3GALT6"],"definition":"Een vorm van spondylodysplastisch syndroom van Ehlers-Danlos, veroorzaakt door varianten in <i>B3GALT6</i> en gekarakteriseerd door kleine gestalte, variabele gradaties van spierhypotonie, gewrichtshypermobiliteit, vooral van de handen, kromstand van ledematen, en congenitale of vroeg optredende, progressieve kyfoscoliose. Bijkomende kenmerken zijn onder meer een typisch craniofaciaal uiterlijk (prominent voorhoofd, schaars haar, hypoplasie van middengezicht, blauwe sclerae, proptosis, en abnormale dentitie), hyperelastische, zachte, dunne, doorschijnende en deegachtige huid, motorische en/of cognitieve ontwikkelingsachterstand, kenmerkende radiografische bevindingen (spondylo-epimetafysaire dysplasie, platyspondylie, anterieure 'beak' van wervellichaam, korte ilia, standsafwijking van elleboog, en gegeneraliseerde osteoporose), gewrichtscontracturen, en aneurysma van aorta ascendens."},"pt":{"name":"Síndrome Ehlers-Danlos espondilodisplásico B3GALT6-relacionado","synonyms":["Síndrome Ehlers-Danlos progeroide tipo 2"]},"pl":{"name":"Zespół Ehlersa i Danlosa kręgosłupowo-dysplastyczny związany z B3GALT6","synonyms":["B3GALT6-related spEDS","B3GALT6-related spondylodysplastic EDS","Beta3GalT6-deficient EDS","Ehlers-Danlos syndrome progeroid type 2","spEDS-B3GALT6"]},"cs":{"name":"B3GALT6-vázaný spondylodysplastický Ehlersův-Danlosův syndrom","synonyms":["spEDS-B3GALT6","B3GALT6-vázaný spEDS","EDS s deficitem Beta3GalT6","Ehlersův-Danlosův syndrom, progeroidní typ 2","B3GALT6-vázaný spondylodysplastický Ehlers-Danlosův syndrom","Ehlers-Danlosův syndrom, progeroidní typ 2"]},"uk":{"name":"B3GALT6-асоційований спондилодиспластичний синдром Елерса-Данлоса","synonyms":["spEDS, повязаний з B3GALT6","B3GALT6-асоційовані спондилодиспластичні EDS","EDS з дефіцитом бета3GalT6","Прогероїд синдрому Елерса-Данлоса 2 типу","spEDS-B3GALT6"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B3GALT6</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm."},"zh":{"name":"B3GALT6基因相关的脊柱发育不良性埃勒斯-当洛斯综合征","synonyms":["Ehlers-Danlos综合征早老症2型"],"definition":"一种罕见的脊柱发育不良性Ehlers-Danlos综合征的亚型，其特征是身材矮小、不同程度的肌张力过低和四肢弯曲。其他特征包括特征性的放射学检查结果（如扁平椎、椎体前缘喙状骨赘、短髂骨、干骺端扩展和全身骨质疏松）、皮肤伸展过度、皮肤软而粗糙、皮肤薄而半透明。运动和(或)认知发育迟缓、脊柱后凸侧弯、关节活动过度(全身或局限于远端关节)、特征性的颅面部特征(如中面部发育不全、蓝巩膜、额部隆起、鼻梁凹陷、低 位耳、小颌、牙齿畸形）、关节挛缩、升主动脉瘤和肺发育不全等。为了确诊，必须进行分子检测。"},"tr":{"name":"B3GALT6-ilişkili spondilodisplastik Ehlers-Danlos sendromu","synonyms":["spEDS-B3GALT6","B3GALT6 ilişkili spEDS","Beta3GalT6-eksik EDS","Ehlers-Danlos sendromu progeroid tip 2"]}},"xrefs":[{"source":"OMIM","code":"615349","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014139","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"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":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":536471,"name":"Spondylodysplastic Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"B3GALT6","name":"beta-1,3-galactosyltransferase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23664117[PMID]","hgnc":"17978","ensembl":"ENSG00000176022","omim":"615291","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"23664117[PMID]_29931299[PMID]_23664118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29931299[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-21","source":"29931299[PMID]","terms":[{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010575","label":"Dysplasia of the femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005008","label":"Large joint dislocations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012095","label":"Multiple joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004993","label":"Slender long bones with narrow diaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002651","label":"Spondyloepimetaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010646","label":"Cervical spine instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006243","label":"Phalangeal dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005678","label":"Anterior atlanto-occipital dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003414","label":"Atlantoaxial dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012366","label":"Basilar invagination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008453","label":"Congenital kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500087","label":"Peripapillary atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006522","label":"Repeated pneumothoraces","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012727","label":"Thoracic aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Occasional (29-5%)","criteria":null}]}}