Traits

Traits linked to PITX1

paired like homeodomain 1

The Human Phenotype Ontology links 26 traits to PITX1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormal humerus morphology	Very often (80–99%)
Abnormal morphology of ulna	Very often (80–99%)
Abnormality of the outermost finger bone	Very often (80–99%)
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Club foot on both sides	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Elbow dislocation	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Absent shankbone	Often (30–79%)
Mirror image duplication of toes	Often (30–79%)
Small kneecap	Often (30–79%)
Preaxial foot polydactyly	Sometimes (5–29%)
Club feet	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Very often (80–99%)
Central cleft palate	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Enlarged cisterna magna	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Popliteal pterygium	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Underdevelopment of part of brain called corpus callosum	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 PITX1 and how often each is seen. Find out more at hpo.jax.org.

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