Traits

Traits linked to TBX4

T-box transcription factor 4

The Human Phenotype Ontology links 98 traits to TBX4, by body system: features seen in people with one of the gene's rare conditions.

TBX4

Abnormality of limbs

Trait	How often it is seen
Small kneecap	Always
Abnormality of the knee	Very often (80–99%)
Absent/small kneecap	Very often (80–99%)
Club feet	Very often (80–99%)
Long fingers	Very often (80–99%)
Long toe	Very often (80–99%)
Tetraamelia	Very often (80–99%)
Acromelia of the lower limbs	Often (30–79%)
Amelia involving the upper limbs	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Shallow acetabular fossae	Sometimes (5–29%)
Absent kneecap	Not recorded
Amelia	Not recorded
Coxa vara	Not recorded
Dislocated kneecap	Not recorded
Flat end part of innermost thighbone	Not recorded
Fused ankle bones	Not recorded
Fusion of foot joint	Not recorded
Hypoplasia of the lesser trochanter	Not recorded
Short thighbone	Not recorded
Wide end part of innermost thighbone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft of the mouth	Very often (80–99%)
Decreased nasal size	Very often (80–99%)
Abnormally small head	Often (30–79%)
Frontal bossing	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow mouth	Often (30–79%)
Non-midline cleft of the upper lip	Often (30–79%)
Bulbous nose	Sometimes (5–29%)
Cleft nasal bridge	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Inflammation of eyelids	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Cleft palate	Not recorded
High palate	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Very often (80–99%)
Aplasia/Hypoplasia involving the pelvis	Very often (80–99%)
Abnormal bone maturation of vertebra	Often (30–79%)
Abnormal formation of the hip	Often (30–79%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
Abnormality of the ribs	Often (30–79%)
Missing ribs	Often (30–79%)
Congenital contracture	Sometimes (5–29%)
Coxa magna	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Cat eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Optic atrophy	Often (30–79%)
Septo-optic dysplasia	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Moderate global developmental delay	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Behavioral abnormality	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormally closed or absent vagina	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Smaller than typical growth of scrotum	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Scrotum surrounds penis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Very often (80–99%)
Abnormal lung lobation	Often (30–79%)
Abnormality of the larynx	Often (30–79%)
Narrowing of windpipe	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Very often (80–99%)
Chronic infections of the middle ear	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)
Faltering weight	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Often (30–79%)
Acid reflux	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Sometimes (5–29%)
Underdeveloped toenails	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Absent/small nipples	Often (30–79%)

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 TBX4 and how often each is seen. Find out more at hpo.jax.org.

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