tibial hemimelia
MONDO:0010144Mondo
Findings
No curated finding names tibial hemimelia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Definition from the Mondo Disease Ontology (MONDO:0010144), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Absent tibiaHPOHP:0009556
- Very frequent (80% to 99% of cases)
- Talipes equinovarusHPOHP:0001762
- Very frequent (80% to 99% of cases)
- Knee flexion contractureHPOHP:0006380
- Frequent (30% to 79% of cases)
- Mesomelic leg shorteningHPOHP:0004987
- Frequent (30% to 79% of cases)
- Split handHPOHP:0001171
- Frequent (30% to 79% of cases)
- Absent halluxHPOHP:0012386
- Occasional (5% to 29% of cases)
- Absent radiusHPOHP:0003974
- Occasional (5% to 29% of cases)
- Ankle hypermobilityHPOHP:0006460
- Occasional (5% to 29% of cases)
- Aplasia of the 2nd metacarpalHPOHP:0010037
- Occasional (5% to 29% of cases)
- Aplasia of the 4th metacarpalHPOHP:0010043
- Occasional (5% to 29% of cases)
- Cutaneous finger syndactylyHPOHP:0010554
- Occasional (5% to 29% of cases)
- Foot oligodactylyHPOHP:0001849
- Occasional (5% to 29% of cases)
Show the remaining 21
- Hip dysplasiaHPOHP:0001385
- Occasional (5% to 29% of cases)
- Metatarsus adductusHPOHP:0001840
- Occasional (5% to 29% of cases)
- OligodactylyHPOHP:0012165
- Occasional (5% to 29% of cases)
- Partial absence of footHPOHP:0030032
- Occasional (5% to 29% of cases)
- PolydactylyHPOHP:0010442
- Occasional (5% to 29% of cases)
- Proximal tibial and fibular fusionHPOHP:0005892
- Occasional (5% to 29% of cases)
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.
- GLI3HGNC:4319
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
4 names
Resolves to: tibial hemimelia
- Also called
- congenital absence of tibiacongenital aplasia and dysplasia of the tibia with intact fibulacongenital longitudinal deficiency of the tibiatibial longitudinal meromelia