Rhizomelic chondrodysplasia punctata

MONDO:0015776

Rhizomelic 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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Where it sits in the disease tree

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Part of

↑ Eye disorder (3079) ↑ Chondrodysplasia punctata (39) ↑ Disorder of plasmalogens biosynthesis (2)

Sub-types of Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata type 1 1 trial
Rhizomelic chondrodysplasia punctata type 2 1 trial
Rhizomelic chondrodysplasia punctata type 3 1 trial
Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types
1 sub-type
- Rhizomelic chondrodysplasia punctata type 5 1 trial

Including sub-types (3) Tagged with Rhizomelic chondrodysplasia punctata (2)

Trials to join now! 2 Completed 1

New diagnostic strategy aims to end diagnostic odyssey for rare diseases

Diagnosis Completed

This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

Sponsor: University Hospital, Lille • Aim: Diagnosis

Last updated Jun 27, 2026 08:02 UTC

Rhizomelic chondrodysplasia punctata

Where it sits in the disease tree

New diagnostic strategy aims to end diagnostic odyssey for rare diseases