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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.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for non-rhizomelic chondrodysplasia punctata.
4 publications have been identified in PubMed for non-rhizomelic chondrodysplasia punctata. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).
Samuels M (2025). [PMID: 39908167](https://pubmed.ncbi.nlm.nih.gov/39908167/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Khalilian S (2025). [PMID: 40205409](https://pubmed.ncbi.nlm.nih.gov/40205409/). *BMC Med Genomics*. [Case Report / Case Series]
Boulling A (2025). [PMID: 40394457](https://pubmed.ncbi.nlm.nih.gov/40394457/). *Genet Sel Evol*. [Basic Science / Preclinical]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center