Traits

Traits linked to FREM1

FRAS1 related extracellular matrix 1

The Human Phenotype Ontology links 49 traits to FREM1, 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
Cleft nasal bridge	Always
Triangular head shape	Always
Cleft nasal tip	Very often (80–99%)
Cleft upper eyelid	Very often (80–99%)
Metopic synostosis	Very often (80–99%)
Short lingual frenulum	Very often (80–99%)
Abnormality of the hairline	Often (30–79%)
Abnormally small head	Often (30–79%)
Blocked tear duct	Often (30–79%)
Broad head shape	Often (30–79%)
Broad nasal tip	Often (30–79%)
Central incisor gap	Often (30–79%)
Cleft eyelid	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Monobrow	Often (30–79%)
Narrow forehead	Often (30–79%)
Prominent brow	Often (30–79%)
Thick eyebrow	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Cryptophthalmos	Sometimes (5–29%)
Bulbous nose	Not recorded
Corneopalpebral synechiae	Not recorded
Short philtrum	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Abnormally close eyes	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Papilledema	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Very often (80–99%)
Narrowing of anal opening	Very often (80–99%)
Omphalocele	Often (30–79%)
Abnormal connection between rectum and vagina	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Delayed speech and language development	Sometimes (5–29%)
Rise in pressure inside skull	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Overfolded ears	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney	Often (30–79%)
Absent kidney on one side	Often (30–79%)
Abnormally closed or absent vagina	Sometimes (5–29%)

Abnormality of limbs

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Ebstein anomaly of the tricuspid valve	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair pattern	Very often (80–99%)

Abnormality of the respiratory system

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

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 FREM1 and how often each is seen. Find out more at hpo.jax.org.

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