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Traits
Traits linked to DDR2
discoidin domain receptor tyrosine kinase 2
The Human Phenotype Ontology links 95 traits to DDR2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Flat nose | Always |
| Narrow eyelid opening | Always |
| Narrow nose | Always |
| Boxer's nasal deformity | Very often (80–99%) |
| Broad face | Often (30–79%) |
| Broad nostril | Often (30–79%) |
| High palate | Often (30–79%) |
| Long face | Often (30–79%) |
| Long philtrum | Often (30–79%) |
| Short neck | Often (30–79%) |
| Underdeveloped tissue around nostril | Often (30–79%) |
| Wider-than-typical soft spot of skull | Often (30–79%) |
| Dental crowding | Sometimes (5–29%) |
| Gum enlargement | Sometimes (5–29%) |
| Short chin | Sometimes (5–29%) |
| Depressed nasal bridge | Not recorded |
| Eye folds | Not recorded |
| Eyelid stuck to eyeball | Not recorded |
| Frontal bossing | Not recorded |
| Little lower jaw | Not recorded |
| Midface retrusion | Not recorded |
| Narrow opening between the eyelids | Not recorded |
| Short nose | Not recorded |
| Zygomatic flattening | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Broad long bones | Always |
| Flattened vertebrae | Always |
| Short long bone | Always |
| C1-C2 subluxation | Often (30–79%) |
| Calcification of cartilage | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Narrow chest | Often (30–79%) |
| Pigeon chest | Often (30–79%) |
| Funnel chest | Sometimes (5–29%) |
| Anterior rib cupping | Not recorded |
| Atlantoaxial instability | Not recorded |
| Bell-shaped thorax | Not recorded |
| Calcification of falx cerebri | Not recorded |
| Flared iliac wing | Not recorded |
| Hypoplasia of the odontoid process | Not recorded |
| Posterior rib cupping | Not recorded |
| Progressive calcification of costochondral cartilage | Not recorded |
| Scoliosis | Not recorded |
| Short ribs | Not recorded |
| Small chest | Not recorded |
| Speckled calcifications in end part of bone | Not recorded |
| Spondyloepimetaphyseal dysplasia | Not recorded |
| Tracheal calcification | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad palm | Always |
| Short finger | Always |
| Short palm | Always |
| Bowed legs | Often (30–79%) |
| Breakdown of small bones of fingers | Often (30–79%) |
| Short finger bones | Often (30–79%) |
| Wrist flexion contracture | Often (30–79%) |
| Ankle flexion contracture | Sometimes (5–29%) |
| Elbow flexion contracture | Sometimes (5–29%) |
| Abnormal calcification of the wrist bones | Not recorded |
| Flared wide portion of long bone | Not recorded |
| Flexion contracture of finger | Not recorded |
| Front half of foot turns inward | Not recorded |
| Inability to straighten knee | Not recorded |
| Long fibula | Not recorded |
| Partial hip dislocation | Not recorded |
| Shortened long bone of hand | Not recorded |
| Smaller or shorter than typical limbs | Not recorded |
| Triangular shaped outermost bone of the hand | Not recorded |
| Wide digital bones | Not recorded |
| Wide long bones of hand | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Very often (80–99%) |
| Breakdown of light-sensitive cells in back of eye | Often (30–79%) |
| Visual impairment | Often (30–79%) |
| Bulging eye | Not recorded |
| Limbal stem cell deficiency | Not recorded |
| New blood vessel formation in cornea | Not recorded |
| Thin cornea | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Conductive deafness | Often (30–79%) |
| Ears rotated toward back of head | Often (30–79%) |
| Underdeveloped ear cartilage | Often (30–79%) |
| Absent ear canal | Sometimes (5–29%) |
| Cholesteatoma | Sometimes (5–29%) |
| Low-set ears | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Motor delay | Often (30–79%) |
| Global developmental delay | Sometimes (5–29%) |
| Fluid-filled cyst in spinal cord | Not recorded |
| Pressure on spinal cord | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Thin skin | Often (30–79%) |
| Follicular hyperkeratosis | Sometimes (5–29%) |
| Poor wound healing | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Sterile abscess | Sometimes (5–29%) |
| Recurrent pneumonia | Not recorded |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Collapsed lung | Often (30–79%) |
| Stiff lung or chest wall causing decreased lung volume | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Redness of skin or mucous membrane | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Disproportionate short-limb short stature | Always |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Joint swelling | Often (30–79%) |
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 DDR2 and how often each is seen. Find out more at hpo.jax.org.
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