{"orpha":93284,"name":"Spondyloepiphyseal dysplasia tarda","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by postnatal onset of disproportionate short stature manifesting within the first two decades of life, associated with short trunk and short neck, arm span significantly greater than height, dorsal kyphosis, lumbar hyperlordosis, barrel-shaped chest, and progressive joint and back pain with precocious osteoarthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93284/","orphanet_url":"https://www.orpha.net/en/disease/detail/93284","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire tardive","definition":"Dysplasie osseuse primaire rare caractérisée par une petite taille disproportionnée apparaissant après la naissance et se manifestant au cours des deux premières décennies de la vie, associée à un tronc et un cou courts, une envergure des bras nettement supérieure à la taille, une cyphose dorsale, une hyperlordose lombaire, un thorax en tonneau et des douleurs articulaires et dorsales progressives, ainsi qu'une arthrose précoce."},"de":{"name":"Dysplasie, spondyloepiphysäre verzögerte","synonyms":["Dysplasia spondyloepiphysaria tarda"],"definition":"Eine seltene primäre Knochendysplasie, die durch einen nach der Geburt auftretenden unverhältnismäßigen Kleinwuchs gekennzeichnet ist, der sich innerhalb der ersten zwei Lebensjahrzehnte manifestiert und mit einem kurzen Rumpf und einem kurzen Hals, einer deutlich größeren Armspannweite als Körpergröße, einer dorsalen Kyphose, einer lumbalen Hyperlordose, einer tonnenförmigen Brust und fortschreitenden Gelenk- und Rückenschmerzen mit vorzeitiger Osteoarthritis einhergeht."},"es":{"name":"Displasia espondiloepifisaria tardía","definition":"La displasia espondiloepifisaria tardía (SEDT) se caracteriza por estatura baja desproporcionada en la adolescencia o la edad adulta, asociada a brazos y tronco cortos y pecho en forma de barril."},"it":{"name":"Displasia spondiloepifisaria tardiva"},"nl":{"name":"Spondylo-epifysaire dysplasia tarda","definition":"Een zeldzame primaire botdysplasie, gekenmerkt door postnataal optreden van disproportioneel kleine gestalte die zich manifesteert binnen de eerste twee levensdecennia, geassocieerd met korte romp en hals, een spanwijdte van de armen die significant groter is dan de lichaamslengte, dorsale kyfose, lumbale hyperlordose, tonvormige borstkas, en progressieve gewrichts- en rugpijn met premature osteoartritis."},"pt":{"name":"Displasia espondiloepifisária tardia","definition":"A displasia espondiloepifisária tardia (SEDT) é caracterizada por baixa estatura desproporcional na adolescência ou na idade adulta, associada a um tronco e braços curtos, e peito em forma de barril."},"pl":{"name":"Dysplazja kręgowo-nasadowa późna"},"cs":{"name":"Spondyloepifyzární dysplázie, pozdní typ"},"uk":{"name":"Пізня спондилоепіфізарна дисплазія","definition":"Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest."},"zh":{"name":"迟发性脊椎骨骺发育不良","definition":"迟发性脊椎骨骺发育不良（SEDT）的特点是青春期或成年时身材矮小，伴有短躯干、短臂和桶状胸。"},"tr":{"name":"Spondiloepifizyal displazi tarda"}},"xrefs":[{"source":"OMIM","code":"184100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"271600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"313400","qualifier":"BTNT","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":"0019667","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10624","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":163673,"name":"Spondyloepiphyseal dysplasia, Byers type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TRAPPC2","name":"trafficking protein particle complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301324[PMID]","hgnc":"23068","ensembl":"ENSG00000196459","omim":"300202","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"27401665[PMID]_32471379[PMID]_20301324[PMID]","terms":[{"hpo":"HP:0001552","label":"Barrel-shaped chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003051","label":"Enlarged metaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004594","label":"Hump-shaped mound of bone in central and posterior portions of vertebral endplate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012771","label":"Increased arm span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005775","label":"Multiple skeletal anomalies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002763","label":"Abnormal cartilage morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010656","label":"Abnormal epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002945","label":"Intervertebral space narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003855","label":"Spurred metaphyses of the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003832","label":"Abnormality of the tibial plateaux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004637","label":"Decreased cervical spine mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010575","label":"Dysplasia of the femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010231","label":"Enlarged epiphyses of the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025131","label":"Finger swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040161","label":"Localized osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006233","label":"Osteoarthritis of the distal interphalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025263","label":"Stiff knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Excluded (0%)","criteria":null}]}}