{"orpha":263463,"name":"CHST3-related skeletal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chondrodysplasia with congenital joint dislocations, CHST3 type","SDCD, CHST3 type","Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type"],"definition":"CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263463/","orphanet_url":"https://www.orpha.net/en/disease/detail/263463","names":{"fr":{"name":"Dysplasie squelettique associée à CHST3","synonyms":["Chondrodysplasie avec luxations congénitales type CHST3","Dysplasie spondylo-épiphysaire avec luxations congénitales type CHST3","SDCD type CHST3"],"definition":"Maladie osseuse très rare caractérisée sur le plan clinique par une petite taille d'apparition prénatale, une luxation des genoux, des hanches ou des coudes, des pieds bots, une limitation de l'amplitude des mouvements des grosses articulations, une cyphose progressive et, parfois, une scoliose. Chez quelques patients, une dysplasie mineure des valves cardiaques a également été décrite. L'intelligence, la vision et l'audition sont normales."},"de":{"name":"CHST3-assoziierte Skelettdysplasie","synonyms":["Chondrodysplasie mit kongenitalen Gelenksdislokationen Typ CHST3","Dysplasie, spondyloepiphysäre, mit kongenitalen Gelenksdislokationen Typ CHST3","SDCD, CHST3-Typ"]},"es":{"name":"Displasia esquelética asociada a CHST3","synonyms":["Condrodisplasia con luxaciones articulares congénitas tipo CHST3","Displasia espondiloepifisaria con luxaciones congénitas de las articulaciones tipo CHST3","SDCD tipo CHST3"],"definition":"Es un trastorno óseo muy poco frecuente caracterizado clínicamente por talla baja de inicio prenatal; luxación de rodillas, caderas o codos; pie zambo; limitaciones del rango de movilidad de las grandes articulaciones; cifosis progresiva; y ocasionalmente escoliosis. En algunos pacientes, se ha descrito displasia valvular cardiaca leve. La capacidad intelectual, la visión y la audición son normales."},"it":{"name":"Displasia scheletrica associata a CHST3","synonyms":["Condrodisplasia con dislocazioni articolari congenite, tipo CHST3","Sindrome di Larsen autosomica recessiva"],"definition":"La displasia scheletrica correlata a CHST3 è una malattia scheletrica molto rara, caratterizzata da bassa statura ad esordio prenatale, dislocazione delle ginocchia, delle anche o dei gomiti, piede torto, limitazione dei movimenti a livello delle grandi articolazioni, cifosi progressiva e scoliosi occasionale. In alcuni pazienti, è stata descritta una lieve displasia delle valvole cardiache. Le abilità cognitive, la vista e l'udito sono normali."},"nl":{"name":"CHST3-gerelateerde skeletdysplasie","synonyms":["Chondrodysplasie met congenitale gewrichtsluxaties, CHST3-type","SDCD, CHST3-type","Spondylo-epifysaire dysplasie met congenitale gewrichtsluxaties, CHST3-type"],"definition":"CHST3-gerelateerde skeletdysplasie is een zeer zeldzame botstoornis die klinisch gekarakteriseerd wordt door een kleine gestalte met prenatale aanvang; dislocatie van de knieën, heupen of ellebogen; klompvoeten; beperkt bewegingsbereik van grote gewrichten; progressieve kyfose; en soms scoliose. Bij enkele patiënten werd ook geringe dysplasie van hartkleppen beschreven. Intelligentie, gezichts- en gehoorvermogen zijn normaal."},"pt":{"name":"Displasia esquelética CHST3-relacionada"},"pl":{"name":"Dysplazja szkieletowa zależna od CHST3","synonyms":["Chondrodysplazja z wrodzonym zwichnięciem stawów, typu CHST3","Dysplazja kręgosłupowo-nasadowa z wrodzonym zwichnięciem stawów, typu CHST3"]},"cs":{"name":"CHST3-vázaná skeletální dysplázie","synonyms":["SDCD typ CHST3","Autozomálně recesivní Larsenův syndrom","Chondrodysplázie s vrozenou dislokací kloubů, typ CHST3","Spondyloepifyzární dysplázie s vrozenou dislokací kloubů, typ CHST3"]},"uk":{"name":"Скелетна дисплазія, повязана з CHST3","synonyms":["Хондродисплазія з вродженими вивихами суглобів, тип CHST3","SDCD, тип CHST3","Спондилоепіфізарна дисплазія з вродженими дислокаціями суглобів, тип CHST3"],"definition":"CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."},"zh":{"name":"CHST3基因相关骨骼发育不良","synonyms":["CHST3型脊柱骨骺发育不良伴先天性关节脱位"],"definition":"CHST3相关性骨骼发育不良是一种非常罕见的骨病，临床特征为出生前身材矮小；膝、髋或肘关节脱位；马蹄内翻足；大关节活动范围受限；进行性脊柱后凸；以及偶发的脊柱侧凸。在少数患者中，也描述了轻微的心脏瓣膜发育不良。智力、视觉和听力都是正常的。"},"tr":{"name":"CHST3 -ilişkili iskelet displazisi","synonyms":["SDCD, CHST3 tipi","Doğumsal eklem çıkıkları ile seyreden kondrodisplazi, CHST3 tipi","Doğumsal eklem çıkıkları ile seyreden spondiloepifizyal displazi, CHST3 tipi"]}},"xrefs":[{"source":"OMIM","code":"143095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"191598862"},{"source":"MONDO","code":"0007738","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837657","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1792,"name":"Humerospinal dysostosis","status":"inactive"},{"type":"Moved to","orpha":93280,"name":"Spondyloepiphyseal dysplasia, Omani type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone 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":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CHST3","name":"carbohydrate sulfotransferase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20830804[PMID]_21882400[PMID]","hgnc":"1971","ensembl":"ENSG00000122863","omim":"603799","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24458487[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24458487[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-18","source":"19320654[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001552","label":"Barrel-shaped chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","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:0003037","label":"Enlarged joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002945","label":"Intervertebral space narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010582","label":"Irregular epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null}]}}