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autosomal dominant chondrodysplasia punctata - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant chondrodysplasia punctata

MONDO:0007321

Also known as:chondrodysplasia punctata Sheffield typechondrodysplasia punctata, Sheffield typechondrodysplasia punctata, autosomal dominant

Overview

Autosomal dominant form of chondrodysplasia punctata.

GeneticsAutosomal dominant

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Talipes equinovarus, Sideways curvature of the spine (scoliosis), Hip contracture, and Sparse hair and 9 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Sideways curvature of the spine (scoliosis), Hypoplasia of the nasal bone

Diagnosis

Biomarker and diagnostic research for autosomal dominant chondrodysplasia punctata has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant chondrodysplasia punctata.

4 publications have been identified in PubMed for autosomal dominant chondrodysplasia punctata. Research spans Case Report / Case Series (75%) and Diagnostic / Biomarker (25%).

Recent Publications

Beckwith MA (2025). [PMID: 39396132](https://pubmed.ncbi.nlm.nih.gov/39396132/). *Genet Med*. [Diagnostic / Biomarker]
Gatsis A (2025). [PMID: 39911174](https://pubmed.ncbi.nlm.nih.gov/39911174/). *Mol Syndromol*. [Case Report / Case Series]
Samuels M (2025). [PMID: 39908167](https://pubmed.ncbi.nlm.nih.gov/39908167/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Qurat Ul Ain (2025). [PMID: 40851144](https://pubmed.ncbi.nlm.nih.gov/40851144/). *J Pak Med Assoc*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:118650

Orphanet

European rare disease database

Orphanet:79344

GARD

Genetic and Rare Diseases Info Center

GARD:1298

Questions for Your Care Team

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autosomal dominant chondrodysplasia punctata

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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