Spondyloepiphyseal dysplasia
MONDO:0016761An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
Also known as: SED, spondyloepiphyseal dysplasia
8 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepiphyseal dysplasia itself.
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Sub-types of Spondyloepiphyseal dysplasia
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Stickler syndrome 2 trials · 4 incl. sub-types
5 sub-types
- Stickler syndrome type 1 3 trials Sub-types →
- Stickler syndrome type 2 2 trials
- Stickler syndrome, type 4 0 trials
- Stickler syndrome, type 5 0 trials
- Stickler syndrome, type 6 0 trials
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COL2A1-related spondyloepiphyseal dysplasia 0 trials · 3 incl. sub-types
6 sub-types
- Stickler syndrome type 1 3 trials Sub-types →
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 0 trials
- Spondyloepiphyseal dysplasia congenita 0 trials
- Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
- Spondyloepiphyseal dysplasia, Stanescu type 0 trials
- Spondyloperipheral dysplasia 0 trials
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Roifman syndrome 1 trial
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Spondyloepiphyseal dysplasia tarda 0 trials · 1 incl. sub-types
6 sub-types
- Spondyloepiphyseal dysplasia tarda, X-linked 1 trial
- Spondyloepiphyseal dysplasia tarda with characteristic facies 0 trials
- Spondyloepiphyseal dysplasia tarda, Kohn type 0 trials
- Spondyloepiphyseal dysplasia tarda, autosomal dominant 0 trials
- Spondyloepiphyseal dysplasia tarda, autosomal recessive 0 trials
- Spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type 0 trials
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CODAS syndrome 0 trials
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Dyggve-Melchior-Clausen disease 0 trials
1 sub-type
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Marshall syndrome 0 trials
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Richieri Costa-da Silva syndrome 0 trials
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Schimke immuno-osseous dysplasia 0 trials
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Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
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Smith-McCort dysplasia 0 trials
2 sub-types
- Smith-McCort dysplasia 1 0 trials
- Smith-McCort dysplasia 2 0 trials
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Steel syndrome 0 trials
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Wolcott-Rallison syndrome 0 trials
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Anauxetic dysplasia 0 trials
3 sub-types
- Anauxetic dysplasia 1 0 trials
- Anauxetic dysplasia 2 0 trials
- Anauxetic dysplasia 3 0 trials
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Cono-spondylar dysplasia 0 trials
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Even-plus syndrome 0 trials
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Hip dysplasia, Beukes type 0 trials
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Metatropic dysplasia 0 trials
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Otospondylomegaepiphyseal dysplasia 0 trials
2 sub-types
Most studied deeper sub-types
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Eye surgery trial to prevent blindness in stickler syndrome pulled before start
Prevention CancelledThis study aimed to see if a surgical procedure called scleral buckling could prevent retinal detachment in people with Stickler syndrome, a genetic condition that raises the risk of vision loss. The plan was to treat one eye in patients aged 5 to 35 who had already lost vision i…
Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Prevention
Last updated Jun 27, 2026 12:29 UTC