Traits

Traits linked to EDN1

endothelin 1

The Human Phenotype Ontology links 38 traits to EDN1, 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
Mandibular condyle hypoplasia	Very often (80–99%)
Abnormality of the jaw joint	Often (30–79%)
Bad bite	Often (30–79%)
Bifid uvula	Often (30–79%)
Cleft palate	Often (30–79%)
Dental crowding	Often (30–79%)
Facial asymmetry	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow mouth	Often (30–79%)
Pits around the ear	Often (30–79%)
Receding chin	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Tongue muscle weakness	Often (30–79%)
Abnormally small tongue	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Hamartoma of tongue	Sometimes (5–29%)
Mandibular condyle aplasia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Question mark ear	Always
Cleft helix	Very often (80–99%)
Abnormality of the crus of the helix	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Absent/small external ear	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Bilateral conductive hearing impairment	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Obstructive sleep apnea	Often (30–79%)
Snoring	Often (30–79%)
Global developmental delay	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Laryngeal cleft	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Vein of Galen aneurysmal malformation	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	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 EDN1 and how often each is seen. Find out more at hpo.jax.org.

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