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Features include sometimes findings: Short 4th metacarpal. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 2 | Short long bone, Coronal cleft vertebrae |
Arms and legs |
Biomarker and diagnostic research for chondrodysplasia punctata, tibial-metacarpal type has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for chondrodysplasia punctata, tibial-metacarpal type.
1 publication has been identified in PubMed for chondrodysplasia punctata, tibial-metacarpal type. Research spans Diagnostic / Biomarker (100%).
Beckwith MA (2025). [PMID: 39396132](https://pubmed.ncbi.nlm.nih.gov/39396132/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Limb undergrowth |
Head and neck | 1 | Coronal cleft vertebrae |
Brain and nerves | 1 | Depressed nasal ridge |