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keratosis palmaris et plantaris-clinodactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratosis palmaris et plantaris-clinodactyly syndrome

MONDO:0007857

Also known as:palmoplantar keratoderma-clinodactyly syndromekeratosis palmaris ET plantaris with clinodactyly

Overview

Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.

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: Clinodactyly of the 5th finger and Abnormality of the skin.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Clinodactyly of the 5th finger
Skin

Diagnosis

Biomarker and diagnostic research for keratosis palmaris et plantaris-clinodactyly 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 keratosis palmaris et plantaris-clinodactyly syndrome.

118 publications have been identified in PubMed for keratosis palmaris et plantaris-clinodactyly syndrome. Research spans Case Report / Case Series (51%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	60	51%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:148520

Orphanet

European rare disease database

Orphanet:86919

GARD

Genetic and Rare Diseases Info Center

GARD:16766

Questions for Your Care Team

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Kisho

keratosis palmaris et plantaris-clinodactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

keratosis palmaris et plantaris-clinodactyly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications