Genetic Syndromes & Genetics
Association (in dysmorphology)
An association is a group of features that occur together more often than by chance but without a known single cause.
In short: Association (in dysmorphology)
- It describes features that cluster without a defined cause.
- It differs from a syndrome or sequence.
- The term reflects an observed pattern rather than a known mechanism.
- It guides which features to look for together.
What it is
It is a group of features that tend to occur together more often than would be expected by chance, but without a single known underlying cause linking them. It is an observed clustering rather than a defined mechanism.
Understanding Association (in dysmorphology)
It differs from a syndrome (which has a defined underlying cause) and a sequence (which stems from one initiating event): an association is recognized because the features statistically co-occur, even when the reason is not understood. The term guides clinicians to look for the other features when one is found, even without a known mechanism.
Why it matters
Understanding an association helps families see why clinicians may look for additional features when one is present, and how the level of certainty about cause differs from a syndrome or sequence.
Common questions
What is an association?
Features that co-occur more than by chance, without a single known cause.
How is it different from a syndrome?
An association lacks a defined underlying cause.
Why is the term used?
To describe an observed pattern that guides evaluation.
Bottom line
An association is a group of features that cluster without a known single cause, differing from a syndrome or sequence.
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