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tricho-retino-dento-digital syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tricho-retino-dento-digital syndrome

MONDO:0008622

Also known as:Bork syndromeuncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndromeBork Stender Schmidt syndrome

Overview

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.

Diagnosis

Biomarker and diagnostic research for tricho-retino-dento-digital syndrome 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 tricho-retino-dento-digital syndrome.

202 publications have been identified in PubMed for tricho-retino-dento-digital syndrome. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (14%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	117	61%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:191482

Orphanet

European rare disease database

Orphanet:1264

GARD

Genetic and Rare Diseases Info Center

GARD:938

Questions for Your Care Team

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tricho-retino-dento-digital syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications