Genetic Syndromes & Genetics
Dysmorphic features
Dysmorphic features are differences in physical appearance that can signal an underlying genetic condition.
In short: Dysmorphic features
- They can prompt evaluation for a syndrome.
- They are subtle differences in structure or appearance.
- They are assessed by a geneticist.
- They are one clue among many in diagnosis.
What it is
It is the term for differences in physical appearance or structure — often subtle — that can be clues to an underlying genetic condition. A geneticist assesses these features as part of a broader evaluation.
Understanding Dysmorphic features
When an encephalocele is accompanied by dysmorphic features, it may prompt evaluation for a syndrome, since such features can be one part of a recognizable pattern. A geneticist examines these features alongside imaging, family history, and testing to determine whether a syndrome is present. They are one clue among several, not a diagnosis on their own.
Why it matters
Understanding dysmorphic features helps families see why a geneticist examines physical features and why their presence, combined with an encephalocele, can prompt genetic testing.
Common questions
What are dysmorphic features?
Differences in physical appearance that can signal a genetic condition.
Who assesses them?
A geneticist.
Do they mean a syndrome is present?
Not on their own — they are one clue among many.
Bottom line
Dysmorphic features are physical differences that can signal a genetic condition and prompt evaluation for a syndrome.
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