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	Hvor ofte det ses
Bell-shaped thorax	Altid
Cupped ribs	Altid
Excessive inward curvature of lower spine	Altid
Flattened vertebrae	Altid
Hypoplastic ischia	Altid
Hypoplastic pubic bone	Altid
Premature osteoarthritis	Altid
Short long bone	Altid
Short ribs	Altid
Small chest	Altid
Small wings of the pelvic girdle	Altid
Abnormal shape of joints	Meget ofte (80–99 %)
Abnormal shape of pelvis bone	Meget ofte (80–99 %)
Abnormal vertebral body morphology	Meget ofte (80–99 %)
Abnormal vertebral morphology	Meget ofte (80–99 %)
Abnormality of the ribs	Meget ofte (80–99 %)
Broad ribs	Meget ofte (80–99 %)
Narrow chest	Meget ofte (80–99 %)
Abnormal development of end part of bone	Ofte (30–79 %)
Abnormal iliac wing morphology	Ofte (30–79 %)
Abnormal shape of long bone	Ofte (30–79 %)
Degenerative joint disease	Ofte (30–79 %)
Small shoulder blade	Ofte (30–79 %)
Abnormal bone maturation of vertebra	Nogle gange (5–29 %)
Coronal cleft vertebrae	Nogle gange (5–29 %)
Enlarged joints	Nogle gange (5–29 %)
Formation of new noncancerous bone on top of existing bone	Nogle gange (5–29 %)
Funnel chest	Nogle gange (5–29 %)
Limitation of joint mobility	Nogle gange (5–29 %)
Pigeon chest	Nogle gange (5–29 %)
Beaking of vertebral bodies	Ikke registreret
Flexed joint that cannot be straightened	Ikke registreret
Large end part of bone	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Broad wide portion of long bone	Altid
Shortened 5th long bone of hand	Altid
Abnormal shape of shaft of long bone	Meget ofte (80–99 %)
Abnormality of the wide portion of a long bone	Meget ofte (80–99 %)
Short fingers or toes	Meget ofte (80–99 %)
Dumbbell-shaped thighbone	Ofte (30–79 %)
Limb undergrowth	Ofte (30–79 %)
Metaphyseal cupping	Ofte (30–79 %)
Abnormal shape of long bones of hand	Nogle gange (5–29 %)
Bowed calf bone	Nogle gange (5–29 %)
Bowed shankbone	Nogle gange (5–29 %)
Flared femoral metaphysis	Nogle gange (5–29 %)
Gap between 1st and 2nd toes	Nogle gange (5–29 %)
Permanent flexion of the finger	Nogle gange (5–29 %)
Short finger bones	Nogle gange (5–29 %)
Shortened long bone of hand	Nogle gange (5–29 %)
Smaller or shorter than typical limbs	Nogle gange (5–29 %)
Absent/small end part of innermost thighbone	Ikke registreret
Flared wide portion of long bone	Ikke registreret
Large ankle bones	Ikke registreret
Prominent hinge joints	Ikke registreret
Short palm	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Depressed nasal bridge	Altid
Frontal bossing	Altid
Midface retrusion	Altid
Nasal tip, upturned	Altid
Prominent brow	Altid
Short nose	Altid
Zygomatic flattening	Altid
Cleft palate	Meget ofte (80–99 %)
Long philtrum	Meget ofte (80–99 %)
Round face	Meget ofte (80–99 %)
Short neck	Meget ofte (80–99 %)
Wider-than-typical soft spot of skull	Meget ofte (80–99 %)
Bifid uvula	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Flat face	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Narrow mouth	Ofte (30–79 %)
Retraction of the tongue	Ofte (30–79 %)
Asymmetry of the posterior head	Nogle gange (5–29 %)
Bulbous nose	Ikke registreret
Pierre-Robin sequence	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Bulging eye	Altid
Wide-set eyes	Nogle gange (5–29 %)
Cross-eyed	Sjældent (1–4%)
Farsightedness	Sjældent (1–4%)
Mild myopia	Sjældent (1–4%)
Clouding of the lens of the eye	Ikke registreret
Degenerative vitreoretinopathy	Ikke registreret
Retinal detachment	Ikke registreret
Severe near sightedness	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Sensorineural hearing impairment	Altid
Hearing abnormality	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Ears rotated toward back of head	Nogle gange (5–29 %)
Mixed hearing impairment	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Belly sticks out	Altid
Omphalocele	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Short stature	Altid
Disproportionate short stature	Meget ofte (80–99 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
High levels of amniotic fluid	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent pneumonia	Ikke registreret

Abnormality of the integument

Trait	Hvor ofte det ses
Small fingernail	Ofte (30–79 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Respiratory function loss	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte det ses
Joint pain	Altid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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