Traits

Traits linked to CRTAP

cartilage associated protein

The Human Phenotype Ontology links 48 traits to CRTAP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Compression fracture of a vertebral body	Always
Multiple fractures present at birth	Always
Recurrent fractures	Always
Abnormal skeletal development	Very often (80–99%)
Abnormal vertebral body morphology	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Crumpled long bones	Very often (80–99%)
Scoliosis	Very often (80–99%)
Hunched back	Often (30–79%)
Low muscle tone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Funnel chest	Not recorded
Multiple rib fractures	Not recorded
Narrow chest	Not recorded
Osteopenia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Delayed eruption of teeth	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Extra bones within cranial sutures	Often (30–79%)
Tall shaped head	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Delayed cranial suture closure	Not recorded
Large cranial suture	Not recorded
Long philtrum	Not recorded
Round face	Not recorded
Soft skullcap	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Coxa vara	Always
Disproportionately short upper portion of limb	Always
Abnormality of the wide portion of a long bone	Very often (80–99%)
Bowing of the long bones	Very often (80–99%)
Abnormally indented hip sockets	Often (30–79%)
Externally rotated hips	Not recorded
Smaller or shorter than typical limbs	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent lung artery	Not recorded
Underdeveloped lung veins	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Bulging eye	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Communicating hydrocephalus	Often (30–79%)
Global developmental delay	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Not recorded

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Very often (80–99%)

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

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