Traits

Traits linked to CHST3

carbohydrate sulfotransferase 3

The Human Phenotype Ontology links 144 traits to CHST3, by body system: features seen in people with one of the gene's rare conditions.

CHST3

Abnormality of the musculoskeletal system

Trait	How often it is seen
Intervertebral space narrowing	Always
Limited hip extension	Always
Scoliosis	Always
Small end part of bone	Always
Abnormal vertebral body morphology	Very often (80–99%)
Barrel-shaped chest	Very often (80–99%)
Disproportionate short-trunked short stature	Very often (80–99%)
Enlarged joints	Very often (80–99%)
Flexed joint that cannot be straightened	Very often (80–99%)
Generalized decreased muscle tone	Very often (80–99%)
Irregular end part of long bone	Very often (80–99%)
Multiple joint dislocation	Very often (80–99%)
Osteopenia	Very often (80–99%)
Double-Jointed	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Recurrent fractures	Often (30–79%)
11 pairs of ribs	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Flattened vertebrae	Sometimes (5–29%)
Generalized osteoporosis	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Shoulder dislocation	Sometimes (5–29%)
Advanced bone age	Not recorded
Coronal cleft vertebrae	Not recorded
Decreased hip abduction	Not recorded
Disease of the joints	Not recorded
Excessive inward curvature of lower spine	Not recorded
Flat end part of bone	Not recorded
Generalized bone demineralization	Not recorded
Hunched back	Not recorded
Irregular vertebral endplates	Not recorded
Joint dislocation	Not recorded
Low muscle tone	Not recorded
Narrow chest	Not recorded
Narrow vertebral interpedicular distance	Not recorded
Osteoporosis	Not recorded
Shield chest	Not recorded
Spondyloepiphyseal dysplasia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Dislocated radial head	Always
Fused forearm bones	Always
Knee dislocation	Always
Abnormality of the elbow	Very often (80–99%)
Disproportionately short upper portion of limb	Very often (80–99%)
Knock knees	Very often (80–99%)
Outward turned elbows	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Back knee	Often (30–79%)
Bunion	Often (30–79%)
Dropped arches	Often (30–79%)
Flared wide portion of long bone	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Metacarpophalangeal joint hyperextensibility	Sometimes (5–29%)
Bilateral single transverse palmar creases	Not recorded
Bowed shankbone	Not recorded
Broad outermost hand bones	Not recorded
Curving of inner forearm bone	Not recorded
Dislocated elbows on both sides	Not recorded
Displaced little finger	Not recorded
Elbow dislocation	Not recorded
Elbow flexion contracture	Not recorded
Enlarged wide portion of a long bone	Not recorded
Fixed elbow flexion	Not recorded
Front half of foot turns inward	Not recorded
Hip dislocation	Not recorded
Multiple carpal ossification centers	Not recorded
Permanent flexion of the finger	Not recorded
Short finger bones	Not recorded
Short neck of thighbone	Not recorded
Short outermost finger bone	Not recorded
Small innermost thighbone end part	Not recorded
Spoon shaped thumbs	Not recorded
Talipes equinovalgus	Not recorded
Underdeveloped inner large forearm bone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Long philtrum	Always
Midface retrusion	Always
Sparse eyebrow	Very often (80–99%)
Broad forehead	Often (30–79%)
Deformity of the skull	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Frontal bossing	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Narrow mouth	Often (30–79%)
Webbed neck	Often (30–79%)
Flat face	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)
Broad head shape	Not recorded
Cleft palate	Not recorded
Decreased size of tooth	Not recorded
High palate	Not recorded
Low hairline at back of neck	Not recorded
Prominent forehead	Not recorded
Short neck	Not recorded
Small face	Not recorded
Thick eyebrow	Not recorded
Widely spaced teeth	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Aortic regurgitation	Not recorded
Aortic valve has two leaflets rather than three	Not recorded
Bulge in wall of root of large artery that carries blood away from heart	Not recorded
Enlarged heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded
Increased blood pressure in blood vessels of lungs	Not recorded
Left ventricular hypertrophy	Not recorded
Mitral regurgitation	Not recorded
Mitral stenosis	Not recorded
Mitral valve prolapse	Not recorded
Narrowing of aortic valve	Not recorded
Narrowing of pulmonic valve	Not recorded
Patent foramen ovale	Not recorded
Tricuspid regurgitation	Not recorded
Tricuspid stenosis	Not recorded
Ventricular hypertrophy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Bulging eye	Often (30–79%)
Developmental glaucoma	Not recorded
Farsightedness	Not recorded
Increased size of eyes	Not recorded
Inward turning cross eyed	Not recorded
Lazy eye	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Prominent antitragus	Sometimes (5–29%)
Hearing impairment	Not recorded
Small ears	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always
Waddling gait	Very often (80–99%)
Delayed motor skills	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Abnormality of the abdominal wall	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Sometimes (5–29%)
Hanging skin	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Not recorded

Constitutional symptom

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

Growth abnormality

Trait	How often it is seen
Short stature	Always

Laboratory abnormality

Trait	How often it is seen
Diminished sulfotransferase activity in cultured fibroblasts	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 CHST3 and how often each is seen. Find out more at hpo.jax.org.

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