Agent Commons Collaborative Research

Spondyloepiphyseal dysplasia

rare

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.

Identifiers
MONDO:0016761 Orphanet:252
Part of
Osteochondrodysplasia
Also known as
SED

Subtypes

All diseases Rare only
Disease Subtypes
COL2A1-related spondyloepiphyseal dysplasia 7
Stickler syndrome 6
Spondyloepiphyseal dysplasia tarda 6
Anauxetic dysplasia 3
Schwartz-Jampel syndrome 2
Smith-McCort dysplasia 2
Otospondylomegaepiphyseal dysplasia 2
Dyggve-Melchior-Clausen disease 1
CODAS syndrome
Ehlers-Danlos syndrome, spondylodysplastic type, 3
MGP-related spondyloepiphyseal dysplasia
MIR140-related spondyloepiphyseal dysplasia
Marshall syndrome
Richieri Costa-da Silva syndrome
Roifman syndrome
Schimke immuno-osseous dysplasia
Silverman-Handmaker type dyssegmental dysplasia
Steel syndrome
TMEM165-congenital disorder of glycosylation
Wolcott-Rallison syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked spondyloepimetaphyseal dysplasia
Brachydactylous dwarfism, Mseleni type
Brachyolmia-amelogenesis imperfecta syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cono-spondylar dysplasia
Dyssegmental dysplasia, Rolland-Desbuquois type
Even-plus syndrome
Hip dysplasia, Beukes type
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Metatropic dysplasia
Progressive pseudorheumatoid arthropathy of childhood
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
Spondyloepiphyseal dysplasia with punctate corneal dystrophy
Spondyloepiphyseal dysplasia, Cantu type
Spondyloepiphyseal dysplasia, Holling type
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia, kondo-fu type
Spondyloepiphyseal dysplasia, nishimura type

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