Short rib dysplasia
MONDO:0019691Also known as: SRP, short-rib dysplasia (with or without polydactyly), ciliopathies with major skeletal involvement
2 clinical trials for this condition and its sub-types, 0 tagged with Short rib dysplasia itself.
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Sub-types of Short rib dysplasia
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Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types
4 sub-types
- Jeune syndrome 1 trial · 2 incl. sub-types Sub-types →
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy 0 trials Sub-types →
- Cranioectodermal dysplasia 0 trials Sub-types →
- Short rib-polydactyly syndrome, Majewski type 0 trials Sub-types →
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Axial spondylometaphyseal dysplasia 0 trials
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Orofaciodigital syndrome IV 0 trials
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Orofaciodigital syndrome type II 0 trials
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Thoracolaryngopelvic dysplasia 0 trials
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Thoracomelic dysplasia 0 trials
Most studied deeper sub-types
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Scientists hunt for disease genes in amish and mennonite communities
Knowledge-focused CompletedThis completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Scientists hunt for early warning signs of kidney failure in rare genetic diseases
Knowledge-focused CompletedThis completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC