{"orpha":93360,"name":"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD-MD","SEMDJL2","Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type","Spondyloepimetaphyseal dysplasia with joint laxity type 2","Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type"],"definition":"Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93360/","orphanet_url":"https://www.orpha.net/en/disease/detail/93360","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type leptodactylique","synonyms":["Dysplasie spondylo-épimétaphysaire avec dislocations multiples, type Hall","Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 2","Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type Hall","Dysplasie spondylo-épimétaphysaire avec luxations multiples","Dysplasie spondylo-épimétaphysaire avec luxations multiples type leptodactylique","SEMD-MD","SEMDJL2"],"definition":"Dysplasie spondylo-épimétaphysaire avec luxations multiples caractérisée par une hypoplasie médio-faciale, une petite taille, une laxité articulaire généralisée, des luxations articulaires multiples (le plus souvent des genoux et des hanches), un mauvais alignement des membres (genu valgum/genu varum) et une déformation progressive de la colonne vertébrale (exemple : cyphose/scoliose). La radiographie révèle des métacarpiens et des métatarses très fins caractéristiques, ainsi que des épiphyses petites et irrégulières, des irrégularités métaphysaires avec des stries verticales, des cols fémoraux resserrés et une légère platyspondylie."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ","synonyms":["Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ","SEMD-MD","SEMDJL2","Spondyloepimetaphysäre Dysplasie mit multiplen Luxationen vom Typ Hall","Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ 2","Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ Hall"]},"es":{"name":"Displasia espondiloepimetafisaria con laxitud articular tipo leptodactilia","synonyms":["SEMDJL2","Displasia espondiloepimetafisaria con laxitud articular tipo 2","Displasia espondiloepimetafisaria con laxitud articular tipo Hall","Displasia espondiloepimetafisaria con luxaciones múltiples tipo Hall","SEMD-MD"],"definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por hipoplasia mediofacial, talla baja, laxitud articular generalizada, luxaciones articulares múltiples (con mayor frecuencia en rodillas y caderas), desalineación de las extremidades (genu valgo/varo) y malformación espinal progresiva (p. ej., cifosis / escoliosis). El estudio radiológico revela metacarpianos y metatarsianos delgados distintivos, así como pequeñas epífisis irregulares, irregularidades metafisarias con estriaciones verticales, cuellos femorales constreñidos y leve platiespondilia, entre otros."},"it":{"name":"Displasia spondiloepimetafisaria con lassit articolare, tipo leptodattilico","synonyms":["'Displasia spondiloepimetafisaria con lassità articolare, tipo 2'","'Displasia spondiloepimetafisaria con lassità articolare, tipo Hall'","Displasia spondiloepimetafisaria con dislocazioni multiple, tipo Hall","Displasia spondiloepimetafisaria con lassit articolare, tipo 2","Displasia spondiloepimetafisaria con lassit articolare, tipo Hall","Displasia spondiloepimetafisaria con lassità articolare, tipo 2","Displasia spondiloepimetafisaria con lassità articolare, tipo Hall","Displasia spondiloepimetafisaria con lassità articolare, tipo leptodattilico","SEMD-MD","SEMDJL2"],"definition":"La displasia spondiloepimetafisaria con dislocazioni multiple è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da ipoplasia medio-facciale, bassa statura, lassità articolare generalizzata, dislocazioni articolari multiple (in particolare delle ginocchia e delle anche), disallineamento degli arti (ginocchio valgo/varo) e deformità progressive della colonna vertebrale (cifosi/scoliosi). Le radiografie evidenziano metacarpi e metatarsi sottili, epifisi irregolari, metafisi irregolari con striature verticali, costrizione dei colli femorali e modesta platispondilia."},"nl":{"name":"Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, leptodactylie-type","synonyms":["SEMD-MD","SEMDJL2","Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 2","Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, Hall-type"],"definition":"Spondylo-epimetafysaire dysplasie met meervoudige dislocaties is een zeldzame, genetische primaire botdysplasie die gekarakteriseerd wordt door hypoplasie van het middengezicht, kleine gestalte, gegeneraliseerde gewrichtslaxiteit, multipele gewrichtsdislocaties (meestal van knieën en heupen), foutieve uitlijning van de ledematen (genua valga (X-benen)/genua vara (O-benen)) en progressieve misvorming van de wervelkolom (e.g. kyfose/scoliose). Radiografie toont kenmerkende slanke metacarpalen en metatarsalen, alsook kleine, onregelmatige epifysen, metafysaire onregelmatigheden met verticale strepen, vernauwde femurhalzen en milde platyspondylie, naast andere afwijkingen."},"pt":{"name":"Displasia espondiloepimetafisária com hipermobilidade articular, tipo leptodactilia","synonyms":["Displasia espondiloepimetafisiária com luxações múltiplas, tipo Hall","Displasia espondiloepimetafisária com hipermobilidade articular tipo 2","Displasia espondiloepimetafisária com hipermobilidade articular, tipo Hall","SEMD-MD","SEMDJL2"]},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa z wielokrotnymi przemieszczeniami","synonyms":["Dysplazja kręgowo-nasadowo-przynasadowa z wielokrotnymi przemieszczeniami, typ Hall","Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu 2","Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu, typ Hall","SEMDJL2","SEMD-MD","Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów, ze smukłymi palcami"]},"cs":{"name":"Spondyloepimetafyzární dysplázie s mnohočetnými dislokacemi","synonyms":["SEMD-MD","SEMDJL2","Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, Hallův typ","Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, typ 2","Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, leptodaktylní typ","Spondyloepimetafyzární dysplázie s mnohočetnými dislokacemi, Hallův typ"]},"uk":{"name":"Спондилоепіметафізарна дисплазія з розхитаністю суглобів, лептодактилійний (жабячий) тип","synonyms":["SEMDJL2","SEMD-MD","Спондилоепіметафізарна дисплазія з розхитаністю суглобів, тип Холла","Спондилоепіметафізарна дисплазія з розхитаністю суглобів 2 типу","Спондилоепіметафізарна дисплазія з множинними вивихами, тип Холла"],"definition":"Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others."},"zh":{"name":"脊椎干骺端发育不良伴多发性脱位","synonyms":["脊椎干骺端发育不良伴多发性脱位，Hall型"],"definition":"伴多发性脱位的脊椎骨骺干骺端发育不全是一种罕见的遗传性原发性骨发育不全疾病，其特征是轻度面中部发育不良、身材矮小、全身关节松弛、多发性关节脱位（最多发于膝关节和髋关节）、肢体力线错位（膝外翻/内翻）和进行性脊柱畸形（如脊柱后凸/脊柱侧凸）。放射学检查显示掌骨和跖骨细长、骨骺小而不规则、干骺端不规则伴垂直条纹、股骨颈缩窄和轻度扁平椎等。"},"tr":{"name":"Çoklu çıkıklar ile seyreden spondiloepimetafizyal displazi","synonyms":["SEMD-MD","SEMDJL2","Eklem gevşekliği tip 2 ile seyreden spondiloepimetafizyal displazi","Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi, Hall tipi","Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi, leptodaktilik tip","çoklu çıkıklar ile seyreden spondiloepimetafizyal displazi, Hall tipi"]}},"xrefs":[{"source":"OMIM","code":"603546","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":"index","validated":true,"icd11_uri":"1852875697"},{"source":"MONDO","code":"0011335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11335","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535784","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863732","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9866","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":"KIF22","name":"kinesin family member 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22152677[PMID]","hgnc":"6391","ensembl":"ENSG00000079616","omim":"603213","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-09","source":"22152677[PMID]_22152678[PMID]","terms":[{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001832","label":"Abnormal metatarsal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010674","label":"Abnormality of the curvature of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006014","label":"Abnormally shaped carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009815","label":"Aplasia/hypoplasia of the extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100168","label":"Fragmented epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031367","label":"Metaphyseal striations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012095","label":"Multiple joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008857","label":"Neonatal short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006236","label":"Slender metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002651","label":"Spondyloepimetaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004875","label":"Neonatal inspiratory stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003048","label":"Radial head subluxation","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:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005619","label":"Thoracolumbar kyphosis","frequency":"Occasional (29-5%)","criteria":null}]}}