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epiphyseal dysplasia-hearing loss-dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epiphyseal dysplasia-hearing loss-dysmorphism syndrome

MONDO:0015941

Also known as:Finucane-Kurtz-Scott syndromeepiphyseal dysplasia hearing loss dysmorphism

Overview

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.

Diagnosis

Biomarker and diagnostic research for epiphyseal dysplasia-hearing loss-dysmorphism 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 epiphyseal dysplasia-hearing loss-dysmorphism syndrome.

171 publications have been identified in PubMed for epiphyseal dysplasia-hearing loss-dysmorphism syndrome. Kisho has analyzed 103 by research type. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (28%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Research summaries	39	38%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1825

GARD

Genetic and Rare Diseases Info Center

GARD:2178

Questions for Your Care Team

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epiphyseal dysplasia-hearing loss-dysmorphism 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