triphalangeal thumb-polysyndactyly syndrome
Findings
No curated finding names triphalangeal thumb-polysyndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017454), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Triphalangeal thumbHPOHP:0001199
- 11 of 12 reported patients
- Finger syndactylyHPOHP:0006101
- 5 of 12 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 4 of 12 reported patients
- Preaxial hand polydactylyHPOHP:0001177
- 3 of 12 reported patients
- Broad thumbHPOHP:0011304
- 2 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LMBR1HGNC:13243
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: triphalangeal thumb-polysyndactyly syndrome
- Also called
- TPT-PS syndrome