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phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

MONDO:0008237

Also known as:Stoll-LC)vy-Francfort syndromeStoll-Lévy-Francfort syndromeStoll-levy-Francfort syndrome

Overview

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.

Diagnosis

Biomarker and diagnostic research for phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome has been reported in the published literature.

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 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.

299 publications have been identified in PubMed for phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome. Kisho has analyzed 136 by research type. Research spans Review / Meta-Analysis (57%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Research summaries	77	57%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:171480

Orphanet

European rare disease database

Orphanet:2878

GARD

Genetic and Rare Diseases Info Center

GARD:4323

Questions for Your Care Team

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phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications