Traits

Traits linked to EED

embryonic ectoderm development

The Human Phenotype Ontology links 45 traits to EED, 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
Big calvaria	Always
Chin with horizontal crease	Always
Downward slanting of the opening between the eyelids	Always
Receding chin	Always
Broad forehead	Not recorded
Depressed nasal bridge	Not recorded
Eye folds	Not recorded
Round face	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Permanent flexion of the finger or toe	Always
Scoliosis	Always
Double-Jointed	Not recorded
Flexed joint that cannot be straightened	Not recorded
Generalized decreased muscle tone	Not recorded
Hypoplastic iliac wing	Not recorded
Osteopenia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Flared wide portion of long bone	Always
Large hands	Always
Broad thumb	Not recorded
Coxa valga	Not recorded
Long fingers	Not recorded
Long foot	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Abnormal gait	Not recorded
Incoordination	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Always
Clouding of the lens of the eye	Always
Wide-set eyes	Always
Drooping upper eyelid	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Always
Long ear	Not recorded
Low-set ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Beauty mark	Always
Small nail	Not recorded
Thin nail	Not recorded

Growth abnormality

Trait	How often it is seen
General overgrowth	Always
Tall stature	Not recorded

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Umbilical hernia	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always

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

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