Traits

Traits linked to TRPS1

transcriptional repressor GATA binding 1

The Human Phenotype Ontology links 97 traits to TRPS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Limited hair on end of eyebrow	Always
Long philtrum	Always
Smooth philtrum	Always
Sparse scalp hair	Always
Thin red part of the upper lip	Always
Deep philtrum	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long upper lip	Very often (80–99%)
Sparse eyebrow	Very often (80–99%)
Sparse eyelashes	Very often (80–99%)
Triangular face	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Aplasia/Hypoplasia of the mandible	Often (30–79%)
Extra teeth	Often (30–79%)
High palate	Often (30–79%)
Thick eyebrow	Often (30–79%)
Abnormality of the palate	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Thick nasal alae	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Bad bite	Not recorded
Chin with horizontal crease	Not recorded
Decreased size of tooth	Not recorded
Delayed eruption of teeth	Not recorded
Dental cavities	Not recorded
Dental crowding	Not recorded
Narrow palate	Not recorded
Pear-shaped nose	Not recorded
Thin eyebrow	Not recorded
Underdeveloped tissue around nostril	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Always
Cone-shaped end part of finger bones	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Short long bone of foot	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Shortened long bone of hand	Very often (80–99%)
Shortening of all finger bones	Very often (80–99%)
Avascular necrosis of the capital femoral epiphysis	Often (30–79%)
Curvature of digit	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Bilateral single transverse palmar creases	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Talipes	Sometimes (5–29%)
Cone-shaped end part of the innermost hand bones	Not recorded
Cone-shaped end part of the middle hand bones	Not recorded
Dropped arches	Not recorded
Flat end part of innermost thighbone	Not recorded
Increased bone density of end part of the outermost hand bones	Not recorded
Short finger	Not recorded
Short finger bones	Not recorded
Short foot	Not recorded
Short palm	Not recorded
Swelling of innermost hinge joints	Not recorded
Winged shoulder blade	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone pain	Very often (80–99%)
Cone-shaped end part of bone	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Formation of new noncancerous bone on top of existing bone	Very often (80–99%)
Multiple long-bone exostoses	Very often (80–99%)
Double-Jointed	Often (30–79%)
Joint dislocation	Often (30–79%)
Low muscle tone	Often (30–79%)
Pigeon chest	Often (30–79%)
Prominent swayback	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Accelerated bone age after puberty	Not recorded
Coxa magna	Not recorded
Decreased muscle tone in infant	Not recorded
Degenerative joint disease	Not recorded
Generalized decreased muscle tone	Not recorded
Osteopenia	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fine hair	Always
Hyperkeratosis	Always
Sparse hair	Always
Brittle nails	Often (30–79%)
Loose redundant skin	Often (30–79%)
White discoloration of nails	Often (30–79%)
Slow-growing hair	Not recorded
Spoon-shaped nails	Not recorded
Thin nail	Not recorded

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Always
Ears rotated toward back of head	Very often (80–99%)
Large ears	Very often (80–99%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Ventriculomegaly	Sometimes (5–29%)
Abnormally low-pitched voice	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Growth delay	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Not recorded

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 TRPS1 and how often each is seen. Find out more at hpo.jax.org.

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