{"orpha":642085,"name":"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondyloepimetaphyseal dysplasia with joint laxity type 3"],"definition":"A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642085/","orphanet_url":"https://www.orpha.net/en/disease/detail/642085","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire associée à EXOC6B","synonyms":["Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 3"],"definition":"Dysplasie osseuse primaire rare caractérisée par de multiples luxations articulaires, en particulier des hanches et des genoux, présentes à la naissance. Elle peut toucher également les coudes, les poignets, les chevilles et les rotules. Une laxité articulaire sévère, une scoliose, des doigts fins et effilés dans la partie distale et un retard de croissance entraînant une petite taille, s'observent pendant la période post-natale. Les radiographies mettent en évidence une gracilité des os du métacarpe et du métatarse, un retard de l'âge osseux et une ossification insuffisante du carpe et du tarse, une dysplasie métaphysaire et épiphysaire, des côtes minces et une dysplasie spondylaire. L'intelligence est généralement préservée."},"de":{"name":"EXOC6B-assoziierte spondyloepimetaphysäre Dysplasie mit Gelenkhypermobilität","synonyms":["Dysplasie, spondyloepimetaphysäre, mit Überstreckbarkeit der Gelenke, Typ 3","EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3"],"definition":"Eine seltene primäre Knochendysplasie, die sich durch multiple Gelenkluxationen, insbesondere in den Hüften und Knien, auszeichnet. Diese sind bereits bei der Geburt vorhanden. Auch die Ellenbogen, Handgelenke, Knöchel und Kniescheiben können betroffen sein. Weitere Merkmale sind schwere Gelenklaxität, Skoliose, schlanke Finger mit distaler Verjüngung sowie Wachstumsstörungen, die sich in der postnatalen Phase entwickeln und zu Kleinwuchs führen. Radiologisch zeigen sich grazile Mittelhand- und Mittelfußknochen, ein verzögertes Knochenalter mit schlecht verknöcherten Handwurzel- und Fußwurzelknochen, metaphysäre und epiphysäre Dysplasie, schlanke Rippen sowie Spondylodysplasie. Die Intelligenz ist in der Regel normal ausgeprägt."},"es":{"name":"Displasia espondiloepimetafisaria con laxitud articular asociada a EXOC6B","synonyms":["Displasia espondiloepimetafisaria con laxitud articular tipo 3","EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por múltiples luxaciones articulares, en particular de las caderas y de las rodillas, presentes al nacimiento, aunque también pueden verse afectados los codos, las muñecas y los tobillos; laxitud articular grave, escoliosis, dedos delgados con ahusamiento distal y deficiencia de crecimiento de inicio en el período posnatal que resulta en talla baja. Los signos radiológicos incluyen metacarpianos y metatarsianos delgados, edad ósea retrasada con escasa osificación de los huesos del carpo y del tarso, displasia metafisaria y epifisaria, costillas delgadas y displasia espondilar. El desarrollo intelectual suele ser normal."},"it":{"name":"Displasia spondiloepimetafisaria con lassità articolare correlata a EXOC6B","synonyms":["Displasia spondiloepimetafisaria con lassità articolare tipo 3","EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3"]},"nl":{"name":"EXOC6B-gerelateerde spondylo-epimetafysaire dysplasie met gewrichtslaxiteit","synonyms":["EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 3"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door meervoudige gewrichtsluxaties, vooral van heup en knie aanwezig bij de geboorte, maar elleboog, pols, enkel en patella kunnen ook aangetast zijn; ernstige gewrichtslaxiteit, scoliose, slanke spits toelopende vingers, en groeideficiëntie die zich ontwikkelt in de postnatale periode en resulteert in kleine gestalte. Dunne metacarpalen en metatarsalen, vertraagde botmaturatie met ondermaatse ossificatie van carpale en tarsale beenderen, metafysaire en epifysaire dysplasie, tengere ribben, and spondylaire dysplasie zijn radiografische verschijnselen. Intelligentie is meestal normaal."},"pt":{"name":"Displasia espondiloepimetafisária com hipermobilidade articular EXOC6B-relacionada","synonyms":["Displasia espondiloepimetafisária com hipermobilidade articular tipo 3","EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3"],"definition":"Displasia óssea primária rara caracterizada por múltiplas luxações articulares, em particular nas ancas e joelhos presentes ao nascimento, mas os cotovelos, pulsos, tornozelos e patelas também podem ser afetados; hipermobilidade articular grave, escoliose, dedos finos com afilamento distal e deficiência de crescimento se desenvolvendo no período pós-natal resultando em baixa estatura. Metacarpos e metatarsos grácil, idade óssea tardia com ossos do carpo e tarso mal ossificados, displasia metafisária e epifisária, costelas finas e displasia espondilar são sinais radiográficos. A inteligência geralmente é normal."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów związana z EXOC6B","synonyms":["EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondyloepimetaphyseal dysplasia with joint laxity type 3"],"definition":"Rzadka pierwotna dysplazja kości charakteryzująca się występującymi od urodzenia licznymi zwichnięciami stawów, w szczególności biodrowych i kolanowych, ale także łokci, nadgarstków, kostek i rzepek; ciężką wiotkością stawów, skoliozą, zwężającymi się palcami oraz niedoborem wzrostu, który rozwija się postnatalnie prowadząc do niskorosłości. W badaniu radiologicznym widoczne są smukłe kości śródręcza i śródstopia, opóźniony wiek kostny ze słabym kostnieniem kości nadgarstka i stępu, dysplazja przynasadowa i nasadowa, smukłe żebra i dysplazja kręgosłupa. Inteligencja jest zwykle prawidłowa."},"cs":{"name":"Spondyloepimetafyzární dysplázie s kloubní laxicitou, typ EXOC6B","synonyms":["EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondyloepimetaphyseal dysplasia with joint laxity type 3"]},"uk":{"name":"EXOC6B-асоційована спондилоепіметафізарна дисплазія зі слабкістю суглобів","synonyms":["EXOC6B-SEMD-JL","SEMDJL3","SEMD-JL3","Спондилоепіметафізарна дисплазія з розхитаністю суглобів типу 3"],"definition":"A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal."}},"xrefs":[{"source":"OMIM","code":"618395","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"EXOC6B","name":"exocyst complex component 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36779427[PMID]","hgnc":"17085","ensembl":"ENSG00000144036","omim":"607880","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"36150098[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36150098[PMID]_ORPHANET"}],"phenotypes":null}