17 doctors weighed in:

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
Dr. Gurmukh Singh
Pathology
6 doctors agree

In brief: 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.

In brief: 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.
Dr. Gurmukh Singh
Dr. Gurmukh Singh
Thank
Dr. Cindy Juster
Pediatrics
6 doctors agree

In brief: 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.

In brief: 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.
Dr. Cindy Juster
Dr. Cindy Juster
Thank
Dr. Joseph Eastern
Dermatology
2 doctors agree

In brief: 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.

In brief: 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.
Dr. Joseph Eastern
Dr. Joseph Eastern
Thank
Dr. James Ferguson
Pediatrics
1 doctor agrees

In brief: 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

In brief: 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
Dr. James Ferguson
Dr. James Ferguson
Thank
Dr. Michael Fisher
Dermatology

In brief: Smooth philtrum

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

In brief: Smooth philtrum

A flattened or smooth philtrum can be a symptom of fetal alcohol syndrome or prader-willi syndrome.
Dr. Michael Fisher
Dr. Michael Fisher
Thank
Get help from a real doctor now
Dr. Jane Van Dis
Board Certified, Obstetrics & Gynecology
15 years in practice
47M people helped
Continue
108,000 doctors available
Read more answers from doctors