ICD·index Chapters ENESDE
LD24.3 category

Spondyloepiphyseal or spondyloepimetaphyseal dysplasias

Definition

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).

Also indexed as

Anauxetic dysplasiaBrachydactylous dwarfism, Mseleni typeCHST3-related skeletal dysplasiaCongenital spondyloepiphyseal dysplasiaCzech dysplasia, metatarsal typeDyggve-Melchior-Clausen diseaseDyssegmental dysplasia, Rolland-Desbuquois typeDyssegmental dysplasia, Silverman-Handmaker typeFibrochondrogenesisKniest dysplasiaMetatropic dwarfismMetatropic dysplasiasMild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritisOtospondylomegaepiphyseal dysplasiaParastremmatic dwarfismProgressive pseudorheumatoid arthropathy of childhoodSED - [spondyloepiphyseal dysplasia]SEDC - [spondyloepiphyseal dysplasia congenita]SLC35D1-CDGSPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasiaSchneckenbecken dysplasiaSmith-McCort dysplasiaSolute carrier family 35 deficiencySpondylar and nasal alterations with striated metaphyses dysplasiaSpondyloenchondrodysplasiaSpondyloenchondromatosisSpondyloepimetaphyseal dysplasia - abnormal dentitionSpondyloepimetaphyseal dysplasia - hypotrichosisSpondyloepimetaphyseal dysplasia - joint laxitySpondyloepimetaphyseal dysplasia - multiple dislocationsSpondyloepimetaphyseal dysplasia - short limb - abnormal calcificationSpondyloepimetaphyseal dysplasia congenita, Strudwick typeSpondyloepimetaphyseal dysplasia, Bieganski typeSpondyloepimetaphyseal dysplasia, Genevieve typeSpondyloepimetaphyseal dysplasia, Handigodu typeSpondyloepimetaphyseal dysplasia, Irapa typeSpondyloepimetaphyseal dysplasia, Menger typeSpondyloepimetaphyseal dysplasia, Missouri typeSpondyloepimetaphyseal dysplasia, Shohat typeSpondyloepimetaphyseal dysplasia, X-linkedSpondyloepimetaphyseal dysplasia, aggrecan typeSpondyloepimetaphyseal dysplasia, anauxetic typeSpondyloepimetaphyseal dysplasia, matrilin-3 typeSpondyloepiphyseal dysplasia tarda, Kohn typeSpondyloepiphyseal dysplasia tarda, X-linkedSpondyloepiphyseal dysplasia, Byers typeSpondyloepiphyseal dysplasia, Cantu typeSpondyloepiphyseal dysplasia, Kimberley typeSpondyloepiphyseal dysplasia, MacDermot typeSpondyloepiphyseal dysplasia, Maroteaux typeSpondyloepiphyseal dysplasia, Nishimura typeSpondyloepiphyseal dysplasia, Omani typeSpondyloepiphyseal dysplasia, Pakistani typeSpondyloepiphyseal dysplasia, Reardon typeSpondyloepiphyseal or spondyloepimetaphyseal dysplasiasSpondyloperipheral dysplasia - short ulnaWeissenbacher- Zweymuller syndromeshort limb dwarfism with saddle nose, spinal alterations and metaphyseal striationspondyloepimetaphyseal dysplasiaspondyloepiphyseal dysplasiaspondyloepiphyseal dysplasia congenitaspondyloepiphyseal dysplasia congenita group

Nearby in Syndromes with skeletal anomalies as a major feature