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triphalangeal thumb-polysyndactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

triphalangeal thumb-polysyndactyly syndrome

MONDO:0017454

Also known as:TPT-PS syndrome

Overview

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.

GeneticsAutosomal dominant · LMBR1 (chr 7)

ResearchLimited published research (1 article)

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 very common findings: Triphalangeal thumb; and common findings: Postaxial hand polydactyly and Finger syndactyly. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Preaxial hand polydactyly, Postaxial hand polydactyly, Finger syndactyly

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LMBR1 encodes limb development membrane protein 1 (490 aa). Putative membrane receptor Highest expression in Adrenal Gland (16.9 TPM) and Testis (14.8 TPM).

Triphalangeal thumb-polysyndactyly syndrome is associated with mutations in the LMBR1 gene on chromosome 7.

LMBR1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LMBR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 2 common features.

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 triphalangeal thumb-polysyndactyly syndrome.

1 publication has been identified in PubMed for triphalangeal thumb-polysyndactyly syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Zepeda-Olmos PM (2024). [PMID: 39273297](https://pubmed.ncbi.nlm.nih.gov/39273297/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190605

Orphanet

European rare disease database

Orphanet:2950

Questions for Your Care Team

→Should I pursue genetic testing for LMBR1, and what would the results mean for my family?
→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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triphalangeal thumb-polysyndactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team