LD24.3
Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
Displasias espondiloepifisárias ou espondiloepimetafisárias
CategoryDefinition
Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterised by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).
Index Terms
Spondyloepiphyseal or spondyloepimetaphyseal dysplasiasCongenital spondyloepiphyseal dysplasiaSEDC - [spondyloepiphyseal dysplasia congenita]spondyloepiphyseal dysplasiaSED - [spondyloepiphyseal dysplasia]spondyloepiphyseal dysplasia congenitaMild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritisKniest dysplasiaSpondyloepimetaphyseal dysplasia congenita, Strudwick typespondyloepiphyseal dysplasia congenita groupspondyloepimetaphyseal dysplasiaSpondyloperipheral dysplasia - short ulnaCzech dysplasia, metatarsal typeOtospondylomegaepiphyseal dysplasiaWeissenbacher- Zweymuller syndromeFibrochondrogenesisDyssegmental dysplasia, Silverman-Handmaker typeDyssegmental dysplasia, Rolland-Desbuquois typeMetatropic dysplasiasMetatropic dwarfismParastremmatic dwarfismSchneckenbecken dysplasiaSolute carrier family 35 deficiencySLC35D1-CDGSpondyloepiphyseal dysplasia, Maroteaux typeSpondyloepimetaphyseal dysplasia - short limb - abnormal calcificationSpondyloepiphyseal dysplasia tarda, X-linkedSpondyloepiphyseal dysplasia, Kimberley typeSpondyloepiphyseal dysplasia, Omani typeSpondyloepiphyseal dysplasia tarda, Kohn typeSpondyloepiphyseal dysplasia, Nishimura typeSpondyloepiphyseal dysplasia, Reardon typeSpondyloepiphyseal dysplasia, MacDermot typeSpondyloepiphyseal dysplasia, Byers typeSpondyloepiphyseal dysplasia, Cantu typeDyggve-Melchior-Clausen diseaseSmith-McCort dysplasiaSpondylar and nasal alterations with striated metaphyses dysplasiaSPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasiashort limb dwarfism with saddle nose, spinal alterations and metaphyseal striationSpondyloepimetaphyseal dysplasia, matrilin-3 typeSpondyloepimetaphyseal dysplasia - joint laxitySpondyloepiphyseal dysplasia, Pakistani typeSpondyloepimetaphyseal dysplasia, aggrecan typeSpondyloepimetaphyseal dysplasia, X-linkedSpondyloepimetaphyseal dysplasia, Irapa typeSpondyloepimetaphyseal dysplasia, Shohat typeSpondyloepimetaphyseal dysplasia, Missouri typeSpondyloepimetaphyseal dysplasia - multiple dislocationsSpondyloepimetaphyseal dysplasia, Handigodu typeSpondyloepimetaphyseal dysplasia - hypotrichosisSpondyloepimetaphyseal dysplasia, Bieganski typeSpondyloepimetaphyseal dysplasia - abnormal dentitionSpondyloepimetaphyseal dysplasia, Genevieve typeSpondyloenchondrodysplasiaSpondyloenchondromatosisProgressive pseudorheumatoid arthropathy of childhoodBrachydactylous dwarfism, Mseleni typeAnauxetic dysplasiaSpondyloepimetaphyseal dysplasia, Menger typeSpondyloepimetaphyseal dysplasia, anauxetic typeCHST3-related skeletal dysplasia