Traits

Traits linked to MMP13

matrix metallopeptidase 13

The Human Phenotype Ontology links 52 traits to MMP13, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Metaphyseal dysplasia	Always
Abnormal morphology of ulna	Very often (80–99%)
Abnormal ulnar metaphysis morphology	Very often (80–99%)
Abnormality of the lower limb	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Metaphyseal chondrodysplasia	Very often (80–99%)
Outward bow-leggedness	Very often (80–99%)
Progressive leg bowing	Very often (80–99%)
Short lower limbs	Very often (80–99%)
Bowed shankbone	Often (30–79%)
Bowed thighbone	Often (30–79%)
Flared wide portion of long bone	Often (30–79%)
Irregular wide portion of a long bone	Often (30–79%)
Knee osteoarthritis	Often (30–79%)
Bowing of outer large bone of the forearm	Not recorded
Broad wide portion of long bone	Not recorded
Coxa vara	Not recorded
Curving of inner forearm bone	Not recorded
Disproportionately short upper portion of limb	Not recorded
Increased bone density in wide portion of long bone	Not recorded
Knock knees	Not recorded
Limited elbow extension	Not recorded
Metaphyseal cupping	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Very often (80–99%)
Abnormal shape of end part of bone	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Low solidness and mass of the bones	Very often (80–99%)
Prominent swayback	Very often (80–99%)
Flat end part of bone	Often (30–79%)
Knee pain	Often (30–79%)
Osteochondritis dissecans	Often (30–79%)
Pear-shaped vertebrae	Often (30–79%)
Scoliosis	Often (30–79%)
Small end part of bone	Often (30–79%)
Thick growth plates	Often (30–79%)
Degenerative joint disease	Not recorded
Flared iliac wing	Not recorded
Flared, irregular rib ends	Not recorded
Flattened vertebrae	Not recorded
Irregular sclerotic endplates	Not recorded
Spondyloepimetaphyseal dysplasia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Motor delay	Not recorded
Waddling gait	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Often (30–79%)
Dental cavities	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Disproportionate short stature	Very often (80–99%)
Short stature	Very often (80–99%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MMP13 and how often each is seen. Find out more at hpo.jax.org.

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