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syndactyly-polydactyly-ear lobe syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndactyly-polydactyly-ear lobe syndrome

MONDO:0008517

Also known as:Spel syndromehallux syndactyly ulnar polydactyly abnormal ear lobessyndactyly-polydactyly-earlobe syndrome

Overview

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Preaxial hand polydactyly, Abnormal earlobe morphology, Broad toe, and Preaxial foot polydactyly and 2 more.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly

Explore clinical features

Diagnosis

Biomarker and diagnostic research for syndactyly-polydactyly-ear lobe 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 syndactyly-polydactyly-ear lobe syndrome.

117 publications have been identified in PubMed for syndactyly-polydactyly-ear lobe syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (15%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	83	71%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:186350

Orphanet

European rare disease database

Orphanet:3259

GARD

Genetic and Rare Diseases Info Center

GARD:5090

Questions for Your Care Team

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syndactyly-polydactyly-ear lobe syndrome

Overview

Clinical Presentation

Explore clinical features

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