Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

cataract-deafness-hypogonadism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-deafness-hypogonadism syndrome

MONDO:0015325

Also known as:Schaap-Taylor-Baraitser syndromecataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature

Overview

Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.

Diagnosis

Biomarker and diagnostic research for cataract-deafness-hypogonadism 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 cataract-deafness-hypogonadism syndrome.

200 publications have been identified in PubMed for cataract-deafness-hypogonadism syndrome. Research spans Review / Meta-Analysis (59%), Epidemiology / Natural History (12%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Research summaries	106	59%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1383

GARD

Genetic and Rare Diseases Info Center

GARD:248

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

cataract-deafness-hypogonadism syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications