Traits

Traits linked to MATN3

matrilin 3

The Human Phenotype Ontology links 63 traits to MATN3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Very often (80–99%)
Excessive inward curvature of lower spine	Very often (80–99%)
Knee pain	Often (30–79%)
Premature osteoarthritis	Often (30–79%)
Ankle pain	Sometimes (5–29%)
Decreased hip abduction	Sometimes (5–29%)
Enlarged joints	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hip joint pain	Sometimes (5–29%)
Intervertebral disk degeneration	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Limited hip movement	Sometimes (5–29%)
Multiple small vertebral fractures	Sometimes (5–29%)
Small chest	Sometimes (5–29%)
Back pain	Rarely (1–4%)
Abnormal development of end part of bone	Not recorded
Degenerative joint disease	Not recorded
Dysplastic iliac wing	Not recorded
Flattened vertebrae	Not recorded
Hypoplastic pubic bone	Not recorded
Irregular end part of long bone	Not recorded
Multiple epiphyseal dysplasia	Not recorded
Narrow greater sciatic notch	Not recorded
Ovoid vertebral bodies	Not recorded
Posterior rib cupping	Not recorded
Short long bone	Not recorded
Small end part of bone	Not recorded
Spondyloepimetaphyseal dysplasia	Not recorded
Squared iliac bones	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short neck of thighbone	Always
Shortened long bone of hand	Always
Bowed legs	Very often (80–99%)
Delayed proximal femoral epiphyseal ossification	Very often (80–99%)
Limb undergrowth	Very often (80–99%)
Abnormal shape of end part of upper limb long bones	Often (30–79%)
Abnormality of the end part of the foot bone	Often (30–79%)
Abnormality of the hip joint	Often (30–79%)
Knock knees	Often (30–79%)
Limited elbow extension	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Abnormality of the hipbone socket	Sometimes (5–29%)
Avascular necrosis of the capital femoral epiphysis	Sometimes (5–29%)
Bowed thighbone	Sometimes (5–29%)
Coxa vara	Sometimes (5–29%)
Osteoarthritis of the small joints of the hand	Sometimes (5–29%)
Broad femoral neck	Not recorded
Broad wide portion of long bone	Not recorded
Delayed ankle bone maturation	Not recorded
Delayed maturation of wrist bone	Not recorded
Flat acetabular roof	Not recorded
Heberden node	Not recorded
Irregular wide portion of a long bone	Not recorded
Metaphyseal spurs	Not recorded
Small innermost thighbone end part	Not recorded
Smaller or shorter than typical limbs	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Always
Short stature	Very often (80–99%)
Mild short stature	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Waddling gait	Very often (80–99%)
Abnormal gait	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Hip pain	Always
Joint pain	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Flat face	Sometimes (5–29%)

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 MATN3 and how often each is seen. Find out more at hpo.jax.org.

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