{"orpha":85166,"name":"Platyspondylic dysplasia, Torrance type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PLSD-T","Platyspondylic dysplasia, Torrance-Luton type","Platyspondylic lethal skeletal dysplasia, Torrance type"],"definition":"Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85166/","orphanet_url":"https://www.orpha.net/en/disease/detail/85166","names":{"fr":{"name":"Dysplasie platyspondylique type Torrance","synonyms":["Dysplasie platyspondylique type Torrance-Luton","PLSD-T"],"definition":"La dysplasie platyspondylique létale de type Torrance-Luton (DPL-T) est une dysplasie squelettique caractérisée par un raccourcissement sévère des membres (les os longs sont larges et courts), une platyspondylie avec des corps vertébraux de forme anormale, des côtes courtes avec les extrémités évasées, une hypoplasie sévère de l'os iliaque et une incurvation du radius. Au niveau histologique, les chondrocytes sont légèrement hypertrophiés et il existe une hypercellularité. La prévalence est inconnue. La maladie se transmet sur le mode autosomique dominant et est due à des mutations du domaine C-propeptide du gène <i>COL2A1</i>. Bien que la DLP-T soit généralement létale, une survie jusqu'à l'âge adulte à été rapportée dans deux familles."},"de":{"name":"Dysplasie, platyspondylitische, Typ Torrance","synonyms":["PLSD-T","Platyspondylitische Dysplasie Typ Torrance-Luton","Platyspondylitische Skelettdysplasie, letale, Typ Torrance"],"definition":"Die Platyspondyle letale Skelettdysplasie (PLSD) Typ Torrance (PLSD-T) ist gekennzeichnet durch hochgradige Verkürzung der Gliedmaßen (die langen Knochen sind kurz und breit), durch Platyspondylie mit oblatenförmigen Wirbelkörpern, kurzen Rippen mit becherartiger vorderer Auftreibung, schwerer Hypoplasie der unteren Beckenknochen und Verbiegung des Radius. Histologische Befunde sind: leicht vergrößerte Chondrozyten und erhöhte Zellzahl."},"es":{"name":"Displasia platispondílica tipo Torrance","synonyms":["Displasia platispondílica esquelética letal tipo Torrance","Displasia platispondílica tipo Torrance-Luton","PLSD-T"],"definition":"La displasia platispondílica esquelética letal (DPEL), tipo Torrance (DPEL-T) es una displasia esquelética caracterizada por un acortamiento grave de las extremidades (huesos largos cortos y anchos), platispondilia con cuerpos vertebrales tipo oblea, costillas cortas con la parte anterior en forma de copa, hipoplasia grave de la ilia inferior e incurvación radial. Los hallazgos histológicos incluyen condrocitos ligeramente agrandados e hipercelularidad. La prevalencia es desconocida. El trastorno se transmite como un rasgo autosómico dominante y está causado por mutaciones en el dominio C-propéptido del gen <i>COL2A1</i>. Aunque la DPEL-T suele ser letal, se ha descrito la supervivencia hasta la edad adulta en dos familias."},"it":{"name":"Displasia platispondilica, tipo Torrance","synonyms":["Displasia platispondilica, tipo Torrance-Luton","Displasia scheletrica platispondilica letale, tipo Torrance","PLSD-T"]},"nl":{"name":"Platyspondylische dysplasie, Torrance-type","synonyms":["PLSD-T","Platyspondylische dysplasie, Torrance-Luton-type","Platyspondylische letale skeletdysplasie, Torrance-type"],"definition":"Platyspondylische letale skeletdysplasie (PLSD), Torrance-type (PLSD-T) is een skeletdysplasie, gekenmerkt door ernstige verkorting van ledematen (korte en brede pijpbeenderen), platyspondylie met wafel-vormige wervellichamen, korte en anterieur verwijde ribben, ernstige hypoplasie van onderste deel van darmbeen (ilium), en kromstand van radius. Histologische bevindingen zijn onder meer licht vergrote chondrocyten en hypercellulariteit. De prevalentie is niet gekend. De aandoening wordt overgedragen als een autosomaal dominant kenmerk, en wordt veroorzaakt door mutaties in het C-propeptide domein van het gen <i>COL2A1</i>. Hoewel PLSD-T doorgaans letaal is, werd bij twee families overleving tot in de volwassenheid gerapporteerd."},"pt":{"name":"Displasia platispondílica, tipo Torrance-Luton"},"pl":{"name":"Dysplazja platyspondyliczna typu Torrance'a","synonyms":["Dysplazja platyspondyliczna, typ Torrance'a i Lutona","plSD-T","Śmiertelna dysplazja platyspondyliczna, typ Torrance'a"]},"cs":{"name":"Platyspondylická dysplázie, Torranceho typ","synonyms":["PLSD-T","Platyspondylická letální skeletální dysplázie, Torranceho typ","Platyspondylická dysplázie, Torranceho-Lutonův typ","Platyspondylická dysplázie, Torrance-Lutonův typ"]},"uk":{"name":"Пластинчаста дисплазія, тип Торренса","synonyms":["Пластинчаста дисплазія, тип Торренса-Лютона","Платиспондилярна летальна скелетна дисплазія, тип Торренса","PLSD-T"],"definition":"Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families."},"zh":{"name":"扁平椎骨发育异常，Torrance型","synonyms":["扁椎骨致死性骨骼发育不良，Torrance型"]},"tr":{"name":"Platispondilik displazi, Torrance tipi","synonyms":["PLSD-T","Platispondilik displazi, Torrance-Luton tipi","Platispondilik letal iskelet displazisi, Torrance tipi"]}},"xrefs":[{"source":"OMIM","code":"151210","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"263213426"},{"source":"MONDO","code":"0007895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835437","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15643621[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001191","label":"Abnormal carpal morphology","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:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003090","label":"Hypoplasia of the capital femoral epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003021","label":"Metaphyseal cupping","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null}]}}