Non-rhizomelic chondrodysplasia punctata

MONDO:0015775

Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.

1 clinical trial for this condition and its sub-types, 0 tagged with Non-rhizomelic chondrodysplasia punctata itself.

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Where it sits in the disease tree

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Sub-types of Non-rhizomelic chondrodysplasia punctata

X-linked chondrodysplasia punctata 1 trial
2 sub-types
- X-linked chondrodysplasia punctata 2 1 trial
- X-linked chondrodysplasia punctata 1 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials
2 sub-types
- Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
- Chondrodysplasia punctata, tibial-metacarpal type 0 trials
Chondrodysplasia punctata, Toriello type 0 trials

Including sub-types (1) Tagged with Non-rhizomelic chondrodysplasia punctata (0)

Trials to join now! 1

New study aims to unlock secrets of rare cholesterol diseases

Knowledge-focused Recruiting now

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Aug 19, 2026 00:00 UTC

Non-rhizomelic chondrodysplasia punctata

Where it sits in the disease tree

New study aims to unlock secrets of rare cholesterol diseases