Kenmerken

Kenmerken gekoppeld aan CTCF

CCCTC-binding factor

De Human Phenotype Ontology koppelt 151 kenmerken aan CTCF, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Broad bone of big toe	Vaak (30–79%)
Curvature of little finger	Vaak (30–79%)
Gap between 1st and 2nd toes	Vaak (30–79%)
Single transverse palmar crease	Vaak (30–79%)
Dropped arches	Soms (5–29%)
Joint contracture of the 5th finger	Soms (5–29%)
Prominent fingertip pads	Soms (5–29%)
Webbed 2nd and 3rd toes	Soms (5–29%)
Acetabular dysplasia	Zelden (1–4%)
Attachment of thumb close to wrist	Zelden (1–4%)
Broad foot	Zelden (1–4%)
Broad palm	Zelden (1–4%)
Club feet	Zelden (1–4%)
Finger syndactyly	Zelden (1–4%)
Fused toes	Zelden (1–4%)
High-arched foot	Zelden (1–4%)
Knock knees	Zelden (1–4%)
Partial hip dislocation	Zelden (1–4%)
Short toe	Zelden (1–4%)
Small hand	Zelden (1–4%)
Tapered finger	Zelden (1–4%)

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Spasticity and rigidity of muscles	Altijd
Low muscle tone	Vaak (30–79%)
Osteopenia	Soms (5–29%)
Abnormal formation of the hip	Zelden (1–4%)
Double-Jointed	Zelden (1–4%)
Hunched back	Zelden (1–4%)
Osteoporosis	Zelden (1–4%)
Permanent flexion of the finger or toe	Zelden (1–4%)
Scoliosis	Zelden (1–4%)
Spastic walk	Zelden (1–4%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Cupped ear	Soms (5–29%)
Ears rotated toward back of head	Soms (5–29%)
Hearing impairment	Soms (5–29%)
Low-set ears	Soms (5–29%)
Overfolded ears	Soms (5–29%)
Large ears	Zelden (1–4%)
Prominent ear	Zelden (1–4%)
Small ears	Zelden (1–4%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Cross-eyed	Vaak (30–79%)
Farsightedness	Vaak (30–79%)
Cornea of eye less than 10mm in diameter	Soms (5–29%)
Deeply set eye	Soms (5–29%)
Wide-set eyes	Soms (5–29%)
Abnormally close eyes	Zelden (1–4%)
Blue outer white part of eyeball	Zelden (1–4%)
Drooping upper eyelid	Zelden (1–4%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Hole in heart wall separating two lower heart chambers	Altijd
An opening in the wall separating the top two chambers of the heart	Vaak (30–79%)
Patent ductus arteriosus	Vaak (30–79%)
Increased blood pressure in blood vessels of lungs	Soms (5–29%)
Mitral regurgitation	Soms (5–29%)
Narrowing of aorta	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Feeding difficulties	Vaak (30–79%)
Acid reflux	Soms (5–29%)
Chronic constipation	Soms (5–29%)
Inguinal hernia	Soms (5–29%)
Nasogastric tube feeding in infancy	Soms (5–29%)
Prolonged yellowing of skin in newborn	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Undescended testes	Vaak (30–79%)
Phimosis	Soms (5–29%)
Small labia majora	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent infections	Vaak (30–79%)
Infection in blood stream	Soms (5–29%)
Recurrent chest infections	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)
Small for gestational age	Vaak (30–79%)
Short stature	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Excessive hair growth	Soms (5–29%)
Spinal dimple	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Pulmonary hemorrhage	Soms (5–29%)

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
Fetal distress	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Chronic lung disease	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan CTCF gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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