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

caudal appendage-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

caudal appendage-deafness syndrome

MONDO:0015233

Also known as:Lynch-Lee-Murday syndromecaudal appendage deafnesscaudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability

Overview

Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.

Diagnosis

Biomarker and diagnostic research for caudal appendage-deafness 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 caudal appendage-deafness syndrome.

277 publications have been identified in PubMed for caudal appendage-deafness syndrome. Kisho has analyzed 91 by research type. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	38	42%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1123

GARD

Genetic and Rare Diseases Info Center

GARD:1163

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

caudal appendage-deafness 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