Traits

Traits linked to COL11A1

collagen type XI alpha 1 chain

The Human Phenotype Ontology links 146 traits to COL11A1, by body system: features seen in people with one of the gene's rare conditions.

COL11A1

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Midface retrusion	Always
Short nose	Always
Abnormal dentition	Very often (80–99%)
Broad head shape	Very often (80–99%)
Cheekbone underdevelopment	Very often (80–99%)
Cleft palate	Very often (80–99%)
Flat face	Very often (80–99%)
Full lower lip	Very often (80–99%)
Full upper lip	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Round face	Very often (80–99%)
Short neck	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Wider-than-typical soft spot of skull	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Bifid uvula	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Decreased size of maxilla	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Frontal bossing	Often (30–79%)
Hypoplastic frontal sinuses	Often (30–79%)
Increased thickness of skull cap	Often (30–79%)
Narrow mouth	Often (30–79%)
Pierre-Robin sequence	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
High palate	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Sparse eyelashes	Sometimes (5–29%)
Absent frontal sinuses	Not recorded
Eye folds	Not recorded
Macrodontia of permanent maxillary central incisor	Not recorded
Widely patent coronal suture	Not recorded
Widely patent sagittal suture	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Ankle pain	Always
Knee pain	Always
Low muscle tone	Always
Lumbar hypolordosis	Always
Recurrent fractures	Always
Abnormal vertebral body morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Bell-shaped thorax	Very often (80–99%)
Broad ribs	Very often (80–99%)
Narrow chest	Very often (80–99%)
Short ribs	Very often (80–99%)
Abnormal deposits of calcium in the brain	Often (30–79%)
Degenerative joint disease	Often (30–79%)
Small shoulder blade	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Flattened vertebrae	Sometimes (5–29%)
Anterior rib cupping	Not recorded
Broad ischia	Not recorded
Broad long bones	Not recorded
Calcification of falx cerebri	Not recorded
Disease of the joints	Not recorded
Hypoplastic ischia	Not recorded
Long collarbone	Not recorded
Meningeal calcification	Not recorded
Narrow greater sciatic notch	Not recorded
Permanent flexion of the finger or toe	Not recorded
Posterior rib cupping	Not recorded
Posterior vertebral hypoplasia	Not recorded
Short long bone	Not recorded
Small chest	Not recorded
Small wings of the pelvic girdle	Not recorded
Spondyloepiphyseal dysplasia	Not recorded
Thin collarbone	Not recorded
Thin ribs	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	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%)
Disproportionately short upper portion of limb	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Bowed thighbone	Often (30–79%)
Dumbbell-shaped long bone	Often (30–79%)
Knock knees	Often (30–79%)
Short thighbone	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Curvature of ring finger	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Bowing of outer large bone of the forearm	Not recorded
Coxa valga	Not recorded
Curving of inner forearm bone	Not recorded
Irregular innermost shankbone end part	Not recorded
Irregular outermost thighbone end part	Not recorded
Irregular thighbone end part	Not recorded
Joint contracture of the hand	Not recorded
Knee osteoarthritis	Not recorded
Long fingers	Not recorded
Long slender fingers	Not recorded
Short calf bone	Not recorded
Short foot	Not recorded
Short palm	Not recorded
Small end part of innermost shankbone	Not recorded
Small end part of outermost thighbone	Not recorded
Small hand	Not recorded
Wide tips of outermost digital bone	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal vitreous humor morphology	Always
Angle closure glaucoma	Always
Close sighted	Always
Clouding of the lens of the eye	Always
Degenerative vitreoretinopathy	Always
Remnants of the hyaloid vascular system	Always
Retinal dysplasia	Always
Severe near sightedness	Always
Bulging eye	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Retinal detachment	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Ectopia lentis	Often (30–79%)
Glaucoma	Often (30–79%)
Lazy eye	Often (30–79%)
Noninflammatory retina disease	Often (30–79%)
Visual impairment	Often (30–79%)
Vitreoretinopathy	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Completely dislocated lens	Not recorded
Enlarged cornea	Not recorded
Inward turning cross eyed	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%)
Recurrent middle ear infection	Often (30–79%)
Tympanic membrane hypermobility	Often (30–79%)
Abnormally shaped ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Often (30–79%)
Small fingernail	Often (30–79%)
Sparse hair	Often (30–79%)
Underdeveloped toenails	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)
Hypoplastic fetal nasal bone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Omphalocele	Sometimes (5–29%)
Belly sticks out	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Upper airway obstruction	Very often (80–99%)
Respiratory function loss	Often (30–79%)

Growth abnormality

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent foramen ovale	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Hydrops fetalis	Not recorded

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 COL11A1 and how often each is seen. Find out more at hpo.jax.org.

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