Trait

Lower-limb joint contracture

A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.

HPO HP:0005750

Also called: Contractures of the joints of the lower limbs, Contractures, lower limbs
Body system: Abnormality of the musculoskeletal system

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24 genes linked to Lower-limb joint contracture

Changes in these genes cause rare conditions in which Lower-limb joint contracture 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.

Gene	How often it is seen	Conditions
ABCC8ATP binding cassette subfamily C member 8	Often (30–79%)	In 1 condition
ALS2alsin Rho guanine nucleotide exchange factor ALS2	Often (30–79%)	In 1 condition
ATP13A2ATPase cation transporting 13A2	Often (30–79%)	In 1 condition
ERLIN1ER lipid raft associated 1	Often (30–79%)	In 1 condition
FUSFUS RNA binding protein	Often (30–79%)	In 1 condition
GCKglucokinase	Often (30–79%)	In 1 condition
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Often (30–79%)	In 1 condition
INSinsulin	Often (30–79%)	In 1 condition
KCNJ11potassium inwardly rectifying channel subfamily J member 11	Often (30–79%)	In 1 condition
PDX1pancreatic and duodenal homeobox 1	Often (30–79%)	In 1 condition
SIGMAR1sigma receptor chaperone 1	Often (30–79%)	In 1 condition
SLC25A19solute carrier family 25 member 19	Often (30–79%)	In 1 condition
SORDsorbitol dehydrogenase	Often (30–79%)	In 1 condition
SPG11SPG11 vesicle trafficking associated, spatacsin	Often (30–79%)	In 1 condition
SPTLC1serine palmitoyltransferase long chain base subunit 1	Often (30–79%)	In 1 condition
SPTLC2serine palmitoyltransferase long chain base subunit 2	Often (30–79%)	In 1 condition
STAT3signal transducer and activator of transcription 3	Often (30–79%)	In 1 condition
SYNE1spectrin repeat containing nuclear envelope protein 1	Often (30–79%)	In 1 condition
TARDBPTAR DNA binding protein	Often (30–79%)	In 1 condition
TRMT2BtRNA methyltransferase 2B	Often (30–79%)	In 1 condition
UBQLN2ubiquilin 2	Often (30–79%)	In 1 condition
ALDH3A2aldehyde dehydrogenase 3 family member A2	Sometimes (5–29%)	In 1 condition
RPL10ribosomal protein L10	Sometimes (5–29%)	In 1 condition
WDR26WD repeat domain 26	Sometimes (5–29%)	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.

Narrower traits

Broader traits

Limb contractures

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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