{"orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["B4GALT7-related spondylodysplastic EDS","EDS progeroid type 1","EDS with short stature and limb anomalies","spEDS-B4GALT7"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B4GALT7</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75496/","orphanet_url":"https://www.orpha.net/en/disease/detail/75496","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos spondylodysplasique lié à B4GALT7","synonyms":["EDS progéroïde type 1","SED avec petite taille et anomalies des membres","SED progéroïde type 1","SED spondylodysplasique lié à B4GALT7","SEDsp lié à B4GALT7","spEDS-B4GALT7"],"definition":"Forme de syndrome d'Ehlers-Danlos spondylodysplasique due à des mutations du gène <i>B4GALT7</i>, caractérisée par une petite taille, une hypotonie musculaire de degré variable, une hypermobilité articulaire (notamment des mains) et une incurvation des membres. Parmi les autres manifestations figurent des traits craniofaciaux caractéristiques (hypoplasie de l'étage moyen du visage, visage rond et aplati, proptose et petite bouche), une peau hyperextensible, douce, fine et translucide d'aspect « pâteux », un retard de développement moteur et/ou cognitif, des résultats radiographiques typiques (synostose radio-ulnaire, subluxation ou luxation de la tête du radius, déformation des métaphyses en flacon d'Erlenmeyer et ostéopénie) et des anomalies oculaires."},"de":{"name":"B4GALT7-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom","synonyms":["B4GALT7-CDG","B4GALT7-abhängiges spondylodysplastisches EDS","EDS mit Kleinwuchs und Extremitätenanomalien","EDS, progeroider Typ","EDS, progeroider Typ 1","PDS","Proteodermatansulfat-Biosynthesedefekt","Xylosylprotein 4-beta-Galactosyltransferase-Mangel","spEDS-B4GALT7"],"definition":"Ein Subtyp des spondylodysplastischen Ehlers-Danlos-Syndroms (EDS), der auf pathogene Varianten des <i>B4GALT7</i>-Gens zurückzuführen ist und durch Kleinwuchs, unterschiedlich ausgeprägte Muskelhypotonie, Gelenkhypermobilität, insbesondere der Hände, und Verkrümmung der Extremitäten gekennzeichnet ist. Weitere Merkmale sind die typische kraniofaziale Ausprägung (Mittelgesichtshypoplasie, rundes, flaches Gesichtsprofil, Proptosis und schmaler Mund), eine überdehnbare, weiche, \"teigig\" aussehende, dünne und durchscheinende Haut, verzögerte motorische und/oder kognitive Entwicklung, charakteristische Röntgenbefunde (wie Radio-Ulnar-Synostose, Subluxation oder Dislokation des Radialkopfes, metaphysäre Verbreiterung und Osteopenie) und Augenanomalien."},"es":{"name":"Síndrome de Ehlers-Danlos espondilodisplásico asociado a B4GALT7","synonyms":["SED con talla baja y anomalías de las extremidades","SED espondilodisplásico asociado a B4GALT7","SED tipo progeroide 1"],"definition":"Es una forma del síndrome de Ehlers-Danlos espondilodisplásico causada por variantes del gen <i>B4GALT7</i> y caracterizada por talla baja, hipotonía muscular de grado variable, hipermovilidad articular, especialmente de las manos, e incurvación de las extremidades. Otros hallazgos adicionales incluyen rasgos craneofaciales distintivos (hipoplasia mediofacial, cara redondeada y aplanada, proptosis y boca estrecha), hiperextensibilidad cutánea y piel fina, translúcida, suave y aterciopelada, retraso del desarrollo motor y/o cognitivo, hallazgos radiológicos característicos (tales como sinostosis radiocubital, subluxación o luxación de la cabeza radial, ensanchamiento metafisario y osteopenia) y anomalías oculares."},"it":{"name":"Sindrome di Ehlers-Danlos spondilodisplastica correlata a B4GALT7","synonyms":["B4GALT7-CDG","Deficit di XGPT","Deficit di galattosiltransferasi I","Deficit di xilosilproteina 4-beta-galattosiltransferasi","Difetto della biosintesi del proteodermatan solfato","EDS, tipo progeroide","PDS"],"definition":"Si tratta di una forma della sindrome di Ehlers-Danlos spondilodisplastica, causata dalle mutazioni del gene <i>B4GALT7</i>, caratterizzata da bassa statura, ipotonia muscolare di grado variabile, ipermobilità articolare, in particolare delle mani, e incurvamento degli arti. Altri segni clinici sono i dismorfismi craniofacciali caratteristici (ipoplasia medio-facciale, viso arrotondato e appiattito, proptosi e bocca stretta), la cute iperelastica, soffice, sottile, traslucente e flaccida, il ritardo dello sviluppo motorio e/o cognitivo, le anomalie radiografiche caratteristiche (sinostosi radio-ulnare, sublussazione o dislocazione della testa del radio, metafisi svasate e osteopenia) e le anomalie oculari."},"nl":{"name":"B4GALT7-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos","synonyms":["B4GALT7-gerelateerd spondylodysplastisch EDS","EDS met kleine gestalte en ledemaatanomalieën","EDS, progeroïd type 1","spEDS-B4GALT7"],"definition":"Een vorm van spondylodysplastisch syndroom van Ehlers-Danlos, veroorzaakt door varianten in <i>B4GALT7</i> en gekarakteriseerd door kleine gestalte, variabele gradaties van spierhypotonie, gewrichtshypermobiliteit, vooral van de handen, en kromstand van ledematen. Bijkomende kenmerken zijn onder meer het typische craniofaciale uiterlijk (hypoplasie van middengezicht, rond en plat gelaat, proptosis en smalle mond), hyperelastische huid die zacht, dun, doorschijnende en deegachtig is, motorische en/of cognitieve ontwikkelingsachterstand, kenmerkende radiografische bevindingen (zoals radio-ulnaire synostose, subluxatie of luxatie van radiuskop, verbreding van metafysen en osteopenie), en ooganomalieën."},"pt":{"name":"Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado","synonyms":["Biossíntese deficiente de sulfato de proteodermatano","Deficiência de galactosiltransferase I","Deficiência de xilosilproteína 4-beta-galactosiltransferase","Síndrome Ehlers-Danlos progeróide tipo 1"]},"pl":{"name":"Zespół Ehlersa i Danlosa, typ progeroidalny","synonyms":["B4GALT7-CDG","Defekt biosyntezy siarczynu proteodermatanu","EDS, typ progeroidalny","Niedobór 4-beta-galaktozylotransferazy ksylozylproteiny","Niedobór galaktozylotransferazy I","Niedobór XGPT","PDS"]},"cs":{"name":"Ehlersův-Danlosův syndrom, progeroidní typ","synonyms":["B4GALT7-CDG","Defektní biosyntéza proteodermatan sulfátu","EDS, progeroidní typ","Deficit galaktosyltransferázy I","PDS","Deficit XGPT","Deficit xylosylprotein 4-beta-galaktosyltransferázy","Ehlers-Danlosův syndrom, progeroidní typ"]},"uk":{"name":"B4GALT7-асоційований спондилодиспластичний синдром Елерса-Данлоса","synonyms":["B4GALT7-асоційовані спондилодиспластичні ЕДС","ЕДС прогероїдного типу 1","ЕДС з низьким зростом та аномаліями кінцівок","spEDS-B4GALT7"],"definition":"A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B4GALT7</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities."},"zh":{"name":"B4GALT7相关脊柱发育不良型Ehlers-Danlos综合征","synonyms":["EDS伴身材矮小和肢体畸形"]},"tr":{"name":"B4GALT7-ilişkili spondilodisplastik Ehlers-Danlos sendromu","synonyms":["spEDS-B4GALT7","EDS progeroid tip 1","B4GALT7-ilişkili spondilodisplastik EDS","Kısa boy ve ekstremite anomali ile seyreden EDS"]}},"xrefs":[{"source":"OMIM","code":"130070","qualifier":"ND","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":"0007526","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680137","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":294049,"name":"Reunion Island Larsen-like syndrome","status":"inactive"}],"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":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]},{"orpha":536471,"name":"Spondylodysplastic Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"B4GALT7","name":"beta-1,4-galactosyltransferase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15211654[PMID]","hgnc":"930","ensembl":"ENSG00000027847","omim":"604327","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26940150[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"26940150[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007469","label":"Palmoplantar cutis gyrata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100813","label":"Testicular torsion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006481","label":"Abnormality of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}