Traits

Traits linked to CTCF

CCCTC-binding factor

The Human Phenotype Ontology links 151 traits to CTCF, by body system: features seen in people with one of the gene's rare conditions.

CTCF

Abnormality of head or neck

Trait	How often it is seen
Decreased volume of lip	Always
Little lower jaw	Always
Abnormal dentition	Often (30–79%)
Abnormal facial shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Long eyelashes	Often (30–79%)
Macrodontia of permanent maxillary central incisor	Often (30–79%)
Thick eyebrow	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Increased size of incisor	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Short columella	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Broad chin	Rarely (1–4%)
Broad opening between the eyelids	Rarely (1–4%)
Coarse facial features	Rarely (1–4%)
Depressed nasal bridge	Rarely (1–4%)
Everted eyelid	Rarely (1–4%)
Hypoplastic philtrum	Rarely (1–4%)
Long face	Rarely (1–4%)
Low hairline at back of neck	Rarely (1–4%)
Low hanging columella	Rarely (1–4%)
Narrow eyelid opening	Rarely (1–4%)
Narrow face	Rarely (1–4%)
Narrow opening between the eyelids	Rarely (1–4%)
Open mouth	Rarely (1–4%)
Pointed chin	Rarely (1–4%)
Prominent brow	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Prominent nasal bridge	Rarely (1–4%)
Short chin	Rarely (1–4%)
Small retruded chin	Rarely (1–4%)
Sparse eyebrow	Rarely (1–4%)
Triangular face	Rarely (1–4%)
Wide nasal base	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal temper tantrums	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Aggressive behavior	Rarely (1–4%)
Ataxia	Rarely (1–4%)
Bilateral tonic-clonic seizure with generalized onset	Rarely (1–4%)
Degeneration of cerebellum	Rarely (1–4%)
Degeneration of cerebrum	Rarely (1–4%)
Depression	Rarely (1–4%)
Dystonia	Rarely (1–4%)
Generalized tonic seizure	Rarely (1–4%)
Obsessive compulsive behavior	Rarely (1–4%)
Periventricular leukomalacia	Rarely (1–4%)
Repetitive movements	Rarely (1–4%)
Thin corpus callosum	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Broad bone of big toe	Often (30–79%)
Curvature of little finger	Often (30–79%)
Gap between 1st and 2nd toes	Often (30–79%)
Single transverse palmar crease	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Joint contracture of the 5th finger	Sometimes (5–29%)
Prominent fingertip pads	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)
Acetabular dysplasia	Rarely (1–4%)
Attachment of thumb close to wrist	Rarely (1–4%)
Broad foot	Rarely (1–4%)
Broad palm	Rarely (1–4%)
Club feet	Rarely (1–4%)
Finger syndactyly	Rarely (1–4%)
Fused toes	Rarely (1–4%)
High-arched foot	Rarely (1–4%)
Knock knees	Rarely (1–4%)
Partial hip dislocation	Rarely (1–4%)
Short toe	Rarely (1–4%)
Small hand	Rarely (1–4%)
Tapered finger	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Always
Low muscle tone	Often (30–79%)
Osteopenia	Sometimes (5–29%)
Abnormal formation of the hip	Rarely (1–4%)
Double-Jointed	Rarely (1–4%)
Hunched back	Rarely (1–4%)
Osteoporosis	Rarely (1–4%)
Permanent flexion of the finger or toe	Rarely (1–4%)
Scoliosis	Rarely (1–4%)
Spastic walk	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)
Large ears	Rarely (1–4%)
Prominent ear	Rarely (1–4%)
Small ears	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Farsightedness	Often (30–79%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Abnormally close eyes	Rarely (1–4%)
Blue outer white part of eyeball	Rarely (1–4%)
Drooping upper eyelid	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Nasogastric tube feeding in infancy	Sometimes (5–29%)
Prolonged yellowing of skin in newborn	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Phimosis	Sometimes (5–29%)
Small labia majora	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Small for gestational age	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Sometimes (5–29%)
Spinal dimple	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Pulmonary hemorrhage	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Chronic lung disease	Sometimes (5–29%)

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

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