Traits

Traits linked to MEGF8

multiple EGF like domains 8

The Human Phenotype Ontology links 101 traits to MEGF8, 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
Abnormality of the skull	Very often (80–99%)
Asymmetry of the posterior head	Very often (80–99%)
Big calvaria	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Eye folds	Very often (80–99%)
Narrow face	Very often (80–99%)
Oxycephaly	Very often (80–99%)
Prominent metopic ridge	Very often (80–99%)
Cloverleaf cranium shape	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Flat nose	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Midface retrusion	Often (30–79%)
Narrow palate	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Tall shaped head	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Wide nose	Often (30–79%)
Bad bite	Sometimes (5–29%)
Blocked tear duct	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Broad neck	Sometimes (5–29%)
Collapsed nostrils	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Flattened bony protrusion above eyes	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High palate	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Lower eyelid folded out	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Triangular head shape	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Always
Fused toes	Always
Short fingers or toes	Always
Curvature of little finger	Very often (80–99%)
More than five fingers or toes on hands or feet	Very often (80–99%)
Short digit	Very often (80–99%)
Short palm	Very often (80–99%)
Webbed fingers or toes	Very often (80–99%)
Absent middle bones of hand	Often (30–79%)
Broad thumb	Often (30–79%)
Club feet	Often (30–79%)
Extra little finger	Often (30–79%)
Hitchhiker thumb	Often (30–79%)
Knock knees	Often (30–79%)
Preaxial foot polydactyly	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Bilateral postaxial polydactyly	Sometimes (5–29%)
Coxa vara	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)
Shortened 4th long bone of hand	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Webbed fingers	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Heart tip and four chambers point towards right side of body	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
All organs on wrong side of body	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Multiple small spleens	Sometimes (5–29%)
Transposition of the great arteries	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Underdevelopment of external reproductive organs	Very often (80–99%)
Undescended testes	Very often (80–99%)
Abnormal reproductive system morphology	Often (30–79%)
Bilateral cryptorchidism	Often (30–79%)
Scrotum surrounds penis	Sometimes (5–29%)
Short penis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Pigeon chest	Often (30–79%)
Diaphragmatic eventration	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)

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%)
Prominent ear	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Abnormal cornea morphology	Often (30–79%)
Cross-eyed	Often (30–79%)
Blue outer white part of eyeball	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Very often (80–99%)
Brief seizures with staring spells	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Very often (80–99%)
Small nipples	Sometimes (5–29%)
Accessory nipple	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Very often (80–99%)
Tall stature	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hanging skin	Often (30–79%)

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 MEGF8 and how often each is seen. Find out more at hpo.jax.org.

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