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