Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
159 Doctors Online

By proceeding, I accept the Terms and Conditions

Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

HCM Blog Instant Access to Doctors
HCM BlogQuestions Answered
HCM Blog Satisfaction

Meyer Syndrome, Silent Aspiration, Short Stature, Motor Delays. Cure For Symptoms?

After doing much research, I feel that my daughter may have say meyer syndrome . How is this usually diagnosed? She has silent aspiration, her metopic sulture has prematurely closed, failure to thrive, short stature, and motor and developmental delays. Her genetic testing has come back fine, but I m concerned that they may not have tested for this, being that it is so rare.
posted on Mon, 31 Dec 2012
Twitter Tue, 1 Jan 2013 Answered on
Twitter Wed, 2 Jan 2013 Last reviewed on
Report Abuse
Pathologist and Microbiologist,  's  Response
Hello and welcome to HCM

The symptoms that you have mentioned- failure to thrive, short stature, motor & developmental delay are features present in number of conditions other than Say Meyer syndrome.
Premature closure of metopic suture and silent aspirations can also be present in other genetic disorders.

What I want to stress is that do not take it for sure that your child has Say Meyer syndrome.
Diagnosis can be made after complete clinical examintion only.
There are certain signs which can be determined by the examining doctor.
So, consult a pediatrician and get the required tests done.
What kind of genetic testing has been done?
Is it karyotype- It is an investigation in which the number and structure of chromosomes is determined.
More specific tests are needed to make a diagnosis of Say Meyer syndrome.

Thanks and take care
Dr Shailja P Wahal

I find this answer helpful
Note: For further follow up on related General & Family Physician Click here.
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer. For a more detailed, immediate answer, try our premium service [Sample answer]
Share on
 

Related questions you may be interested in


Recent questions on Downs' syndrome


Loading Online Doctors....
Meyer Syndrome, Silent Aspiration, Short Stature, Motor Delays. Cure For Symptoms?

Hello and welcome to HCM The symptoms that you have mentioned- failure to thrive, short stature, motor & developmental delay are features present in number of conditions other than Say Meyer syndrome. Premature closure of metopic suture and silent aspirations can also be present in other genetic disorders. What I want to stress is that do not take it for sure that your child has Say Meyer syndrome. Diagnosis can be made after complete clinical examintion only. There are certain signs which can be determined by the examining doctor. So, consult a pediatrician and get the required tests done. What kind of genetic testing has been done? Is it karyotype- It is an investigation in which the number and structure of chromosomes is determined. More specific tests are needed to make a diagnosis of Say Meyer syndrome. Thanks and take care Dr Shailja P Wahal