Rhizomelic chondrodysplasia punctata
MONDO:0015776Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.
Also known as: RCDP, rhizomelic chondrodysplasia punctata, rhizomelic chondrodysplasia punctata syndrome, rhizomelic dwarfism
3 clinical trials for this condition and its sub-types, 2 tagged with Rhizomelic chondrodysplasia punctata itself.
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Sub-types of Rhizomelic chondrodysplasia punctata
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Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types
1 sub-type
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Can a patient registry unlock the secrets of a rare bone disorder?
Knowledge-focused Recruiting nowThis study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…
Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Researchers track rare metabolic disorders to unlock secrets
Knowledge-focused Recruiting nowThis study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC