A member asked:

Pediatrian has concerns about my sons facial features he has a smooth philtrum a long head and small ears sending him for genetic testing why is this?

17 doctors weighed in across 5 answers

The worry is...: ...That your son might have an inherited condition, of which there are many, and some of which include problems with internal organs that need to be corrected. The reason for genetic testing is first to determine if he does have an inherited syndrome, or just unusual facial features; and if the former, to determine the chances that he might pass it on to his own children later on.

Answered 7/9/2012

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Signs of syndromes: There are a number of genetic disorders that have those findings; genetic testing will help sort out which one it is, if any, and will also help your doctor know what other associated issues to look for and if there is a risk for your future pregnancies. It also helps to know the exact cause in order to know if your son needs to see other specialists or if treatment is needed.

Answered 11/26/2013

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Abnormal facies: Certain facial features are associates with genetic disorders. Your pediatrician is correct in asking for genetic testing to ensure that a treatable disorder is not missed. In some genetic disorders early diagnosis can make an important difference in limiting damage form the disorder.

Answered 9/28/2016

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Smooth philtrum: A flattened or smooth philtrum can be a symptom of fetal alcohol syndrome or prader-willi syndrome.

Answered 12/20/2012

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Proper management: Syndromes are a confusing concept. It is a collection of features that when recognizes may predict later health issues in a person that would otherwise go undetected for years. Early recognition can lead to early treatments that maximize a kids chances of avoiding complications and having the best life. Yet it could be nothing more than normal variation. Your doc is being thorough. Its a good idea

Answered 8/13/2017

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