tibia, hypoplasia or aplasia of, with polydactyly
Findings
No curated finding names tibia, hypoplasia or aplasia of, with polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
Definition from the Mondo Disease Ontology (MONDO:0008572), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Preaxial polydactylyHPOHP:0100258
- 12 of 13 reported patients
- Triphalangeal thumbHPOHP:0001199
- 11 of 13 reported patients
- Abnormal fibula morphologyHPOHP:0002991
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the tibiaHPOHP:0005772
- Very frequent (80% to 99% of cases)
- Patellar aplasiaHPOHP:0006443
- Very frequent (80% to 99% of cases)
- Short stature
Where it sits
Other names
2 names
Resolves to: tibia, hypoplasia or aplasia of, with polydactyly
- Also called
- absent tibia-polydactyly syndromehypoplastic tibiae-postaxial polydactyly syndrome