Traits

Traits linked to TBX5

T-box transcription factor 5

The Human Phenotype Ontology links 116 traits to TBX5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Absent 1st long bone of hand	Always
Absent index finger	Always
Absent middle finger	Always
Absent outermost bone of the 4th toe	Always
Attachment of thumb close to wrist	Always
Bowing of outer large bone of the forearm	Always
Curvature of little finger	Always
Curved thumb deviated towards palm	Always
Curving of inner forearm bone	Always
Distally placed thumb	Always
Duplication of the outermost bone of the 3rd toe	Always
Elbow dislocation	Always
Fused forearm bones	Always
Hand monodactyly	Always
Hypoplasia of deltoid muscle	Always
Limited pronation/supination of forearm	Always
Radial deviation of the hand	Always
Short forearm	Always
Short middle bone of index finger	Always
Short middle bone of the little finger	Always
Shortened 1st long bone of hand	Always
Single transverse palmar crease	Always
Small hypothenar eminence	Always
Upper limb undergrowth	Always
Webbed 1st-2nd finger	Always
Webbed 2nd-3rd fingers	Always
Y-shaped metatarsals	Always
Abnormal wrist bones	Very often (80–99%)
Split hand	Very often (80–99%)
3-4 finger cutaneous syndactyly	Often (30–79%)
Abnormal shape of long bones of hand	Often (30–79%)
Absent thumb	Often (30–79%)
Aplasia of the pectoralis major muscle	Often (30–79%)
Aplasia/Hypoplasia of the radius	Often (30–79%)
Curvature of finger	Often (30–79%)
Extra little finger	Often (30–79%)
Finger-like thumb	Often (30–79%)
Limited elbow extension	Often (30–79%)
Short digit	Often (30–79%)
Short humerus	Often (30–79%)
Short thumb	Often (30–79%)
Small thenar eminence	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Abnormal humerus morphology	Sometimes (5–29%)
Aplasia of the ulna	Sometimes (5–29%)
Broad thumb	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Missing outer large bone of forearm	Sometimes (5–29%)
Phocomelia	Sometimes (5–29%)
Upper limb phocomelia	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Amelia involving the upper limbs	Rarely (1–4%)
Partial duplication of the thumb bones	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal coronary artery origin	Always
Atrial septal dilatation	Always
Atrioventricular dissociation	Always
Complete heart block	Always
Cor triatriatum sinister	Always
Double outlet right ventricle	Always
First degree atrioventricular block	Always
Mitral regurgitation	Always
Mitral valve prolapse	Always
Narrowing of pulmonic valve	Always
Right atrial enlargement	Always
Sinus bradycardia	Always
Sinus venosus atrial septal defect	Always
Small right heart chamber	Always
Tricuspid regurgitation	Always
Tricuspid valve prolapse	Always
Ventricular tachycardia	Always
Abnormal cardiovascular system morphology	Very often (80–99%)
An opening in the wall separating the top two chambers of the heart	Very often (80–99%)
Cardiac conduction abnormality	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased blood pressure in blood vessels of lungs	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Often (30–79%)
Paroxysmal atrial fibrillation	Often (30–79%)
Secundum atrial septal defect	Often (30–79%)
Abnormal aortic morphology	Sometimes (5–29%)
Anomalous pulmonary venous return	Sometimes (5–29%)
Complete atrioventricular canal defect	Sometimes (5–29%)
Hole in center of heart	Sometimes (5–29%)
Left ventricular noncompaction cardiomyopathy	Sometimes (5–29%)
Muscular ventricular septal defect	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Perimembranous ventricular septal defect	Sometimes (5–29%)
Persistent left superior vena cava	Sometimes (5–29%)
Underdeveloped left heart	Sometimes (5–29%)
Common atrium	Rarely (1–4%)
Coronary sinus atrial septal defect	Rarely (1–4%)
Patent foramen ovale	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
11 pairs of ribs	Always
Cervical C2/C3 vertebral fusion	Always
Narrow chest	Always
Rounded shoulders	Always
Shield chest	Always
Shoulder dislocation	Always
Small shoulder blade	Always
Abnormal collarbone	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Funnel chest	Often (30–79%)
Hunched back	Often (30–79%)
Scoliosis	Often (30–79%)
Short collarbone	Often (30–79%)
Abnormality of the ribs	Sometimes (5–29%)
High shoulder blade	Sometimes (5–29%)
Thoracic scoliosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft soft palate	Always
High palate	Always
Little lower jaw	Always
Long philtrum	Always
Long, narrow head	Always
Short neck	Always

Abnormality of the digestive system

Trait	How often it is seen
Abdominal situs inversus	Always

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	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 TBX5 and how often each is seen. Find out more at hpo.jax.org.

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