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Trait

Tibial pseudarthrosis

Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.

HPO HP:0009736

Summary

Also called
Tibial pseudoarthrosis
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

1 gene linked to Tibial pseudarthrosis

Changes in these genes cause rare conditions in which Tibial pseudarthrosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
NF1neurofibromin 1Rarely (1–4%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of the shankbonePseudoarthrosis

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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