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tibial hemimelia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tibial hemimelia

MONDO:0010144

Also known as:congenital absence of tibiacongenital aplasia and dysplasia of the tibia with intact fibulacongenital longitudinal deficiency of the tibia

Overview

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.

GeneticsAutosomal recessive

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: Bone and joint problems (abnormality of the skeletal system) and Absent tibia.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bone and joint problems (abnormality of the skeletal system)

Explore clinical features

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (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 tibial hemimelia.

11 publications have been identified in PubMed for tibial hemimelia. Research spans Case Report / Case Series (64%), Epidemiology / Natural History (18%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	7	64%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:275220

Orphanet

European rare disease database

Orphanet:93322

GARD

Genetic and Rare Diseases Info Center

GARD:8707

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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tibial hemimelia

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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