LD24.3 Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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).
synonyms
- Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
- Congenital spondyloepiphyseal dysplasia
- SEDC - [spondyloepiphyseal dysplasia congenita]
- spondyloepiphyseal dysplasia
- SED - [spondyloepiphyseal dysplasia]
- spondyloepiphyseal dysplasia congenita
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Kniest dysplasia
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- spondyloepiphyseal dysplasia congenita group
- spondyloepimetaphyseal dysplasia
- Spondyloperipheral dysplasia - short ulna
- Czech dysplasia, metatarsal type
- Otospondylomegaepiphyseal dysplasia
- Weissenbacher- Zweymuller syndrome
- Fibrochondrogenesis
- Dyssegmental dysplasia, Silverman-Handmaker type
- Dyssegmental dysplasia, Rolland-Desbuquois type
- Metatropic dysplasias
- Metatropic dwarfism
- Parastremmatic dwarfism
- Schneckenbecken dysplasia
- Solute carrier family 35 deficiency
- SLC35D1-CDG
- Spondyloepiphyseal dysplasia, Maroteaux type
- Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
- Spondyloepiphyseal dysplasia tarda, X-linked
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondyloepiphyseal dysplasia, Omani type
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondyloepiphyseal dysplasia, Nishimura type
- Spondyloepiphyseal dysplasia, Reardon type
- Spondyloepiphyseal dysplasia, MacDermot type
- Spondyloepiphyseal dysplasia, Byers type
- Spondyloepiphyseal dysplasia, Cantu type
- Dyggve-Melchior-Clausen disease
- Smith-McCort dysplasia
- Spondylar and nasal alterations with striated metaphyses dysplasia
- SPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasia
- short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation
- Spondyloepimetaphyseal dysplasia, matrilin-3 type
- Spondyloepimetaphyseal dysplasia - joint laxity
- Spondyloepiphyseal dysplasia, Pakistani type
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepimetaphyseal dysplasia, X-linked
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia - multiple dislocations
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepimetaphyseal dysplasia - hypotrichosis
- Spondyloepimetaphyseal dysplasia, Bieganski type
- Spondyloepimetaphyseal dysplasia - abnormal dentition
- Spondyloepimetaphyseal dysplasia, Genevieve type
- Spondyloenchondrodysplasia
- Spondyloenchondromatosis
- Progressive pseudorheumatoid arthropathy of childhood
- Brachydactylous dwarfism, Mseleni type
- Anauxetic dysplasia
- Spondyloepimetaphyseal dysplasia, Menger type
- Spondyloepimetaphyseal dysplasia, anauxetic type
- CHST3-related skeletal dysplasia
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