Clinical examination required for diagnosing genetic disease is

1-physical examination
2-medical history
3-lab tests
 Physical examinations related to genetics disorders is based on
dysmorphology ( which is the study of abnormal form )
In physical examinations
-precise obstruction
-accurate description
-collation and categorization of physical differences is needed
What we basically look for is
Form , size , proportion , positioning , spacing , symmetry and facial features
.
Which let us reach the genetic diagnosis
 At first we look for the overall appearance and then we go for more
prcised and carful exams
Those exams should done in systematic way in which we start from
head and proceeds downward
 Head Trunk Extremities Skin

-skull -chest Hands -pigments

-forehead -spine Feet's -texture
-ear -ribcage Joints -elasticity
-nose -heart -wound
-eyes healing
-mouth
-teeth
 To support the physical examination more information obtained form
medical and family history of the patient is needed
- Genetic family history
- -pedigree
- -risk assements
Signs and symptoms of galactosemia
If given milk or milk products, a newborn or infant with galactosemia can develop signs and
symptoms that include:
poor feeding
vomiting
jaundice
poor weight gain
failure to regain birth weight, which usually happens by the time a newborn is two weeks old
lethargy
irritability
seizures
cataracts
an enlarged liver (hepatomegaly)
low blood sugar (hypoglycemia)
References
http://what-when-how.com/genetics/the-physical-examination-in-
clinical-genetics/
http://www.childrenshospital.org/conditions-and-
treatments/conditions/galactosemia/symptoms-and-causes