Traits

Traits linked to RUNX2

RUNX family transcription factor 2

The Human Phenotype Ontology links 104 traits to RUNX2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Extra teeth	Always
Frontal bossing	Always
Parietal bossing	Always
Abnormal dentition	Very often (80–99%)
Abnormal tooth enamel	Very often (80–99%)
Cheekbone underdevelopment	Very often (80–99%)
Dental cavities	Very often (80–99%)
Extra bones within cranial sutures	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Sloping forehead	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Big lower jaw	Often (30–79%)
Decreased bone formation of skull	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Dimple chin	Often (30–79%)
Midface retrusion	Often (30–79%)
Open bite	Often (30–79%)
Short face	Often (30–79%)
Sinus disease	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)
Absent frontal sinuses	Not recorded
Aplasia/Hypoplasia of the calvaria	Not recorded
Beaked nose	Not recorded
Big foramen magnum	Not recorded
Decreased size of maxilla	Not recorded
Decreased volume of lip	Not recorded
Delayed eruption of baby teeth	Not recorded
Delayed eruption of permanent teeth	Not recorded
Early tooth loss	Not recorded
High palate	Not recorded
Hypoplastic frontal sinuses	Not recorded
Increased thickness of skull cap	Not recorded
Missing paranasal sinuses	Not recorded
Narrow palate	Not recorded
Persistent open anterior fontanelle	Not recorded
Short philtrum	Not recorded
Thin dental enamel	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal facility in opposing the shoulders	Always
Abnormal skeletal development	Very often (80–99%)
Hypoplastic inferior ilia	Very often (80–99%)
Narrow chest	Very often (80–99%)
Rounded shoulders	Very often (80–99%)
Short collarbone	Very often (80–99%)
Abnormal sacrum morphology	Often (30–79%)
Abnormality of the ribs	Often (30–79%)
Absent collarbone	Often (30–79%)
Osteoporosis	Often (30–79%)
Abnormal shape of end part of bone	Sometimes (5–29%)
Abnormal shape of pelvic girdle bone	Sometimes (5–29%)
Recurrent fractures	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Small shoulder blade	Sometimes (5–29%)
Cervical ribs	Not recorded
Delayed maturation of pubic bone	Not recorded
Displacement of one backbone compared to another	Not recorded
Flattened vertebrae	Not recorded
Hunched back	Not recorded
Hypoplastic iliac wing	Not recorded
Increased bone mineral density	Not recorded
Increased susceptibility to fractures	Not recorded
Multiple small vertebral fractures	Not recorded
Osteoporosis of vertebrae	Not recorded
Short ribs	Not recorded
Spondylolysis	Not recorded
Wide pubic symphysis	Not recorded
Wide sacroiliac joint	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal shape of long bones of hand	Often (30–79%)
Coxa vara	Often (30–79%)
Hip dislocation	Often (30–79%)
Short fingers or toes	Often (30–79%)
Abnormality of the thumb	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)
Cone-shaped end part of finger bones	Not recorded
Flared wide portion of long bone	Not recorded
Long 2nd long bone of hand	Not recorded
Metaphyseal dysplasia	Not recorded
Short middle bone of index finger	Not recorded
Short middle bone of the little finger	Not recorded
Short neck of thighbone	Not recorded
Shortened 5th long bone of hand	Not recorded

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)
Hearing abnormality	Often (30–79%)
Hearing impairment	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Spina bifida occulta	Often (30–79%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Not recorded

Abnormality of the integument

Trait	How often it is seen
Poor fingernail formation	Sometimes (5–29%)
Poor toenail formation	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded
Neonatal respiratory distress	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Moderate short stature	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	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 RUNX2 and how often each is seen. Find out more at hpo.jax.org.

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