Traits

Traits linked to COL11A2

collagen type XI alpha 2 chain

The Human Phenotype Ontology links 99 traits to COL11A2, 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
Bell-shaped thorax	Always
Cupped ribs	Always
Excessive inward curvature of lower spine	Always
Flattened vertebrae	Always
Hypoplastic ischia	Always
Hypoplastic pubic bone	Always
Premature osteoarthritis	Always
Short long bone	Always
Short ribs	Always
Small chest	Always
Small wings of the pelvic girdle	Always
Abnormal shape of joints	Very often (80–99%)
Abnormal shape of pelvis bone	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Abnormal vertebral morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Broad ribs	Very often (80–99%)
Narrow chest	Very often (80–99%)
Abnormal development of end part of bone	Often (30–79%)
Abnormal iliac wing morphology	Often (30–79%)
Abnormal shape of long bone	Often (30–79%)
Degenerative joint disease	Often (30–79%)
Small shoulder blade	Often (30–79%)
Abnormal bone maturation of vertebra	Sometimes (5–29%)
Coronal cleft vertebrae	Sometimes (5–29%)
Enlarged joints	Sometimes (5–29%)
Formation of new noncancerous bone on top of existing bone	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Beaking of vertebral bodies	Not recorded
Flexed joint that cannot be straightened	Not recorded
Large end part of bone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	Always
Shortened 5th long bone of hand	Always
Abnormal shape of shaft of long bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Dumbbell-shaped thighbone	Often (30–79%)
Limb undergrowth	Often (30–79%)
Metaphyseal cupping	Often (30–79%)
Abnormal shape of long bones of hand	Sometimes (5–29%)
Bowed calf bone	Sometimes (5–29%)
Bowed shankbone	Sometimes (5–29%)
Flared femoral metaphysis	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Short finger bones	Sometimes (5–29%)
Shortened long bone of hand	Sometimes (5–29%)
Smaller or shorter than typical limbs	Sometimes (5–29%)
Absent/small end part of innermost thighbone	Not recorded
Flared wide portion of long bone	Not recorded
Large ankle bones	Not recorded
Prominent hinge joints	Not recorded
Short palm	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Frontal bossing	Always
Midface retrusion	Always
Nasal tip, upturned	Always
Prominent brow	Always
Short nose	Always
Zygomatic flattening	Always
Cleft palate	Very often (80–99%)
Long philtrum	Very often (80–99%)
Round face	Very often (80–99%)
Short neck	Very often (80–99%)
Wider-than-typical soft spot of skull	Very often (80–99%)
Bifid uvula	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Flat face	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow mouth	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Bulbous nose	Not recorded
Pierre-Robin sequence	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Wide-set eyes	Sometimes (5–29%)
Cross-eyed	Rarely (1–4%)
Farsightedness	Rarely (1–4%)
Mild myopia	Rarely (1–4%)
Clouding of the lens of the eye	Not recorded
Degenerative vitreoretinopathy	Not recorded
Retinal detachment	Not recorded
Severe near sightedness	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Hearing abnormality	Often (30–79%)
Low-set ears	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Mixed hearing impairment	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Belly sticks out	Always
Omphalocele	Sometimes (5–29%)

Growth abnormality

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

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Not recorded

Abnormality of the integument

Trait	How often it is seen
Small fingernail	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Always

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 COL11A2 and how often each is seen. Find out more at hpo.jax.org.

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