Traits

Traits linked to FREM2

FRAS1 related extracellular matrix 2

The Human Phenotype Ontology links 86 traits to FREM2, by body system: features seen in people with one of the gene's rare conditions.

FREM2

Abnormality of head or neck

Trait	How often it is seen
Absent tear duct	Very often (80–99%)
Cryptophthalmos	Very often (80–99%)
Malformed tear ducts	Very often (80–99%)
Abnormal of nasal shape	Often (30–79%)
Bad bite	Often (30–79%)
Cleft tongue	Often (30–79%)
Dental crowding	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Cleft nostril	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Cranial defect	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Midline nasal groove	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Underdeveloped tissue around nostril	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Adhesion of eyelids	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Ambiguous external genitalia	Always
Absent/small kidney	Very often (80–99%)
Urinary tract abnormalities	Very often (80–99%)
Abnormal vagina morphology	Often (30–79%)
Abnormally closed or absent vagina	Often (30–79%)
Absent bladder	Often (30–79%)
Bilateral renal agenesis	Often (30–79%)
Female pseudohermaphroditism	Often (30–79%)
Smaller than typical growth of scrotum	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Absent kidney	Sometimes (5–29%)
Absent kidney on one side	Sometimes (5–29%)
Heart shaped uterus	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Ureteral agenesis	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)
Small kidneys	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Often (30–79%)
Anorectal anomaly	Often (30–79%)
Narrowing of anal opening	Often (30–79%)
Abnormal anus position	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Rectal atresia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Abdominal bloating	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormality of the middle ear	Often (30–79%)
Abnormality of the outer ear	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Absent ear canal	Sometimes (5–29%)
Conductive deafness	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Laryngeal hypoplasia	Often (30–79%)
Laryngeal stenosis	Often (30–79%)
Abnormal lung lobation	Sometimes (5–29%)
Hypoplasia of the epiglottis	Sometimes (5–29%)
Narrowing of windpipe	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Subglottic stenosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blindness	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Absence of eyeballs	Often (30–79%)
Wide-set eyes	Often (30–79%)
Glaucoma	Not recorded

Abnormality of limbs

Trait	How often it is seen
Cutaneous syndactyly	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Fused toes	Often (30–79%)
Limb undergrowth	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Shorter than typical length between neck and abdomen	Sometimes (5–29%)
Vertebral segmentation defect	Sometimes (5–29%)
Abnormality of the ribs	Rarely (1–4%)
Wide pubic symphysis	Rarely (1–4%)

Abnormality of the cardiovascular system

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

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)
Myelomeningocele	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair pattern	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 FREM2 and how often each is seen. Find out more at hpo.jax.org.

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