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Trait

Lower limb undergrowth

Leg shortening because of underdevelopment of one or more bones of the lower extremity.

HPO HP:0009816

Summary

Also called
Underdeveloped lower limb bones, Hypoplasia involving bones of the lower limbs, Hypoplasia of the lower limbs
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

3 condition reports read genes linked to this trait

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4 genes linked to Lower limb undergrowth

Changes in these genes cause rare conditions in which Lower limb undergrowth 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
CHUKcomponent of inhibitor of nuclear factor kappa B kinase complexAlwaysIn 1 condition
SHOXSHOX homeoboxVery often (80–99%)In 1 condition
NOGnogginNot recordedIn 1 condition
PAPSS23'-phosphoadenosine 5'-phosphosulfate synthase 2Not recordedIn 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.

Narrower traits

Broader traits

Absent/small lower limb bonesLimb undergrowth

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 2026.10.19-9814e911.

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