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heart defect - tongue hamartoma - polysyndactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heart defect - tongue hamartoma - polysyndactyly syndrome

MONDO:0009008

Also known as:Ostravik-Lindemann-Solberg syndromeCHDTHPOrstavik Lindemann Solberg syndrome

Overview

GeneticsAutosomal recessive · WDPCP (chr 2)

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 always present findings: Postaxial polydactyly type A, Feeding difficulties, Coarctation of aorta, and 2-3 toe syndactyly and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	2-3 finger cutaneous syndactyly, Postaxial hand polydactyly, 2-3 toe syndactyly

Genetic Landscape

WDPCP function has not been fully characterized.

Heart defect - tongue hamartoma - polysyndactyly syndrome is associated with mutations in the WDPCP gene on chromosome 2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for WDPCP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for heart defect - tongue hamartoma - polysyndactyly syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features.

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 heart defect - tongue hamartoma - polysyndactyly syndrome.

101 publications have been identified in PubMed for heart defect - tongue hamartoma - polysyndactyly syndrome. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	59	69%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217085

Orphanet

European rare disease database

Orphanet:1338

GARD

Genetic and Rare Diseases Info Center

GARD:4166

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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heart defect - tongue hamartoma - polysyndactyly syndrome

Overview

Clinical Presentation

Genetic Landscape

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

heart defect - tongue hamartoma - polysyndactyly syndrome

Overview

Clinical Presentation

Genetic Landscape

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