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odontochondrodysplasia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

odontochondrodysplasia 1

MONDO:0100325

Also known as:odontochondrodysplasiaGoldblatt chondrodysplasiaGoldblatt syndrome

Overview

A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.

GeneticsAutosomal recessive · TRIP11 (chr 14)

OnsetNEONATAL

ResearchLimited published research (2 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 always present findings: Brachydactyly, Spondylometaphyseal dysplasia, and Macrocephaly; and very common findings: Micromelia, Short stature, Narrow chest, and Joint hypermobility and others. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Weak and brittle bones (osteoporosis), Short long bone, Sideways curvature of the spine (scoliosis)

Genetic Landscape

TRIP11 function has not been fully characterized.

Odontochondrodysplasia 1 is associated with mutations in the TRIP11 gene on chromosome 14.

Diagnosis

Genetic testing for TRIP11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 9 very common features, 5 common features.

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 odontochondrodysplasia 1.

2 publications have been identified in PubMed for odontochondrodysplasia 1. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Thompson G (2025). [PMID: 40824304](https://pubmed.ncbi.nlm.nih.gov/40824304/). *J Cell Biol*. [Basic Science / Preclinical]
Abdel-Hamid MS (2025). [PMID: 40119123](https://pubmed.ncbi.nlm.nih.gov/40119123/). *J Hum Genet*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:184260

Orphanet

European rare disease database

Orphanet:166272

GARD

Genetic and Rare Diseases Info Center

GARD:8717

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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odontochondrodysplasia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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