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chondrodysplasia punctata, Toriello type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chondrodysplasia punctata, Toriello type

MONDO:0008973

Also known as:Toriello-Higgins-Miller syndromechondrodysplasia punctata syndrome

Overview

Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.

Diagnosis

Biomarker and diagnostic research for chondrodysplasia punctata, Toriello type has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 chondrodysplasia punctata, Toriello type.

164 publications have been identified in PubMed for chondrodysplasia punctata, Toriello type. Research spans Review / Meta-Analysis (53%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	87	53%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 5:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:215105

Orphanet

European rare disease database

Orphanet:79347

GARD

Genetic and Rare Diseases Info Center

GARD:16716

Questions for Your Care Team

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chondrodysplasia punctata, Toriello type

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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