Physical Characteristics
What is a physical phenotype?
A physical phenotype is a term used to describe the physical characteristics associated with a particular syndrome. This includes facial characteristics, posture, movement/mobility, limb characteristics, body shape etc.
Are descriptions of physical phenotypes necessary?
Families have told us that often the first information they came across about a syndrome was a detailed account of physical characteristics. Some families have noted that this information typically feels very medical and does not feel person centred. When we have included information on physical characteristics on this website we have provided broader information about individuals with each syndrome to try and address this issue.
We have chosen to include descriptions of physical phenotypes as this information is important when making a diagnosis, when assessing health difficulties and for making sense of why some behavioural difficulties develop. Information about physical characteristics is also important to consider when developing interventions, for example, communication aids.
In addition, some families have described how this information can be important for developing a coherent understanding of a particular syndrome and for helping to make sense of the diagnosis. Also some of the families who have gone on to meet other children with a given genetic syndrome through support groups, have described how seeing these commonalities can be reassuring and give them a sense of belonging with that group.
How do physical characteristics of a syndrome aid diagnosis?
Physical characteristics are often the first thing that may be noted prior to a child receiving a diagnosis of a genetic syndrome, in fact, many diagnoses will be made clinically based on the physical characteristics of a syndrome. This is particularly important in syndromes where genetic testing may not be readily available, or where genetic tests are inconclusive because the underlying cause of the syndrome is unknown or difficult to detect.
Do physical characteristics lead to health difficulties?
Some physical characteristics of a syndrome can give rise to health difficulties. One example of this is gastrointestinal reflux (severe heart burn) in Cornelia de Lange syndrome.
You can read about health difficulties in specific genetic syndromes by clicking on the following links:
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How do physical characteristics impact on behavioural difficulties?
There are numerous examples of how physical characteristics can impact on behavioural difficulties and syndrome specific information about behavioural difficulties can be found by clicking on the links below.
Examples of physical difficulties that may be a precursor to behaviour difficulties are poor mobility and changes to the palate and jaw that impact on a person’s ability to form words clearly. Limited mobility and lower communication ability are associated with behavioural difficulties as they impact a person’s ability to gain access to preferred activities or stop activities they dislike as the communicative tools that allow them to have an impact on the world around them are reduced.
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