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chondroectodermal dysplasia with night blindness - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chondroectodermal dysplasia with night blindness

MONDO:0017869

Overview

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.

ResearchLimited published research (1 article)

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 chondroectodermal dysplasia with night blindness.

1 publication has been identified in PubMed for chondroectodermal dysplasia with night blindness. Research spans Case Report / Case Series (100%).

Recent Publications

Aksoy B (2025). [PMID: 39881615](https://pubmed.ncbi.nlm.nih.gov/39881615/). *Turk J Ophthalmol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:319195

GARD

Genetic and Rare Diseases Info Center

GARD:21408

Questions for Your Care Team

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chondroectodermal dysplasia with night blindness

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team