Traits

Traits linked to CHST14

carbohydrate sulfotransferase 14

The Human Phenotype Ontology links 108 traits to CHST14, by body system: features seen in people with one of the gene's rare conditions.

CHST14

Abnormality of head or neck

Trait	How often it is seen
Facial asymmetry	Always
High palate	Always
Long philtrum	Always
Narrow mouth	Always
Short columella	Always
Short nose	Always
Small retruded chin	Always
Thin red part of the upper lip	Always
Wide fontanelles	Always
Deep laugh lines	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Cleft lip	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Abnormal facial shape	Not recorded
Abnormality of the mouth	Not recorded
Broad forehead	Not recorded
Broad head shape	Not recorded
Corners of eye widely separated	Not recorded
Delayed cranial suture closure	Not recorded
Flat forehead	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal arthrogryposis	Always
Scoliosis	Always
Thoracic lordosis	Always
Abnormal cervical spine	Very often (80–99%)
Abnormality of the sternum	Very often (80–99%)
Arthrogryposis multiplex congenita	Very often (80–99%)
Congenital contracture	Very often (80–99%)
Decreased muscle mass	Very often (80–99%)
Hypermobility of all joints	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Recurrent joint dislocation	Very often (80–99%)
Funnel chest	Often (30–79%)
Joint dislocation	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Rounded neck	Often (30–79%)
Atlantoaxial dislocation	Sometimes (5–29%)
Double-Jointed	Not recorded
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Scarring	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Very often (80–99%)
Colonic diverticula	Often (30–79%)
Abnormal mesentery morphology	Sometimes (5–29%)
Inguinal hernia	Rarely (1–4%)
Malrotation of small bowel	Rarely (1–4%)
Abnormal duodenum morphology	Not recorded
Gap between large left and right abdominal muscles	Not recorded
Intestinal malrotation	Not recorded
Stomach hernia	Not recorded
Umbilical hernia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Wide-set eyes	Always
Cross-eyed	Very often (80–99%)
Astigmatism	Often (30–79%)
Close sighted	Often (30–79%)
Glaucoma	Often (30–79%)
High eye pressure	Often (30–79%)
Retinal detachment	Often (30–79%)
Abnormal anterior chamber morphology	Not recorded
Cornea of eye less than 10mm in diameter	Not recorded

Abnormality of limbs

Trait	How often it is seen
Shallow palm line	Very often (80–99%)
Slender finger	Very often (80–99%)
Abnormal feet structure	Often (30–79%)
Club feet	Often (30–79%)
Redundant, wrinkled skin of palms	Often (30–79%)
Tapered finger	Often (30–79%)
Inward turned thumb	Not recorded
Long slender fingers	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic regurgitation	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Abnormal heart valve morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Tricuspid valve prolapse	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Very often (80–99%)
Bladder stones	Often (30–79%)
Functional abnormality of the bladder	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Horseshoe kidney	Rarely (1–4%)
Nephrotic syndrome	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Abnormally shaped ears	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Large ears	Very often (80–99%)
Prominent ear	Very often (80–99%)
Hearing impairment	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Dysesthesia	Very often (80–99%)
Intellectual disability	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Global developmental delay	Not recorded
Motor delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always
Bleeding below the skin	Very often (80–99%)
Bleeding tendency	Very often (80–99%)
Ecchymosis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Always
Sunken or indented skin due to damage	Very often (80–99%)
Fragile skin	Often (30–79%)
Loose redundant skin	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent skin infections	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Collapsed lung	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Disproportionate tall stature	Very often (80–99%)

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 CHST14 and how often each is seen. Find out more at hpo.jax.org.

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