Trait

Contractures of the foot joints

Clinical name: Foot joint contracture

Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.

HPO HP:0008366

Also called: Contractures involving the joints of the feet, Joint contractures involving the joints of the feet
Body system: Abnormality of limbs Abnormality of the musculoskeletal system

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9 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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18 genes linked to Contractures of the foot joints

Changes in these genes cause rare conditions in which Contractures of the foot joints 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
ERCC4ERCC excision repair 4, endonuclease catalytic subunit	Very often (80–99%)	In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factor	Very often (80–99%)	In 1 condition
ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit	Very often (80–99%)	In 1 condition
MYBPC1myosin binding protein C1	Very often (80–99%)	In 1 condition
DDHD2DDHD domain containing 2	Often (30–79%)	In 1 condition
BCAS3BCAS3 microtubule associated cell migration factor	Sometimes (5–29%)	In 1 condition
BRF1BRF1 general transcription factor IIIB subunit	Sometimes (5–29%)	In 1 condition
CAV1caveolin 1	Sometimes (5–29%)	In 1 condition
CCN2cellular communication network factor 2	Sometimes (5–29%)	In 1 condition
CCR6C-C motif chemokine receptor 6	Sometimes (5–29%)	In 1 condition
COL12A1collagen type XII alpha 1 chain	Sometimes (5–29%)	In 1 condition
COL7A1collagen type VII alpha 1 chain	Sometimes (5–29%)	In 1 condition
HLA-DRB1major histocompatibility complex, class II, DR beta 1	Sometimes (5–29%)	In 1 condition
IRF5interferon regulatory factor 5	Sometimes (5–29%)	In 1 condition
KCNK9potassium two pore domain channel subfamily K member 9	Sometimes (5–29%)	In 1 condition
KIAA0319LKIAA0319 like	Sometimes (5–29%)	In 1 condition
MMP1matrix metallopeptidase 1	Sometimes (5–29%)	In 1 condition
PTRH2peptidyl-tRNA hydrolase 2	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

Abnormal feet structure Lower-limb joint contracture

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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