Aarskog Syndrome & the Importance of Genetic Information

Each year, countless numbers of children are born with genetic birth defects. With advancing technology, many parents are well informed of the newborn's potential health complications before birth.

Aarskog syndrome is an inherited genetic disorder that only affects male children. While females may be carriers, exhibiting only slight traits, the full presentation of symptoms will occur in males who are born with the X chromosome defect.

Because diagnosis of Aarskog syndrome is made by physical examination of the infant, many parents will learn of their son's genetic disorder at the time birth occurs. For others, the genetic complication is revealed through prenatal genetic testing through amniocentesis. It is important to note, here, that this genetic defect shows no discrimination among race or ethnicity.

Because Aarskog syndrome is directly linked to a defect in the one X chromosome of the male genetic code, the symptoms will present as a widening of the forehead with additional space between the eyes, drooping eyelids, small ears and small nose, complications with the fingers and toes and even complications involving the testes and genitalia. Other complications that progress with age, may include complications associated with slight mental impairment and even complications involving dental or oral cavity development.

At birth, the obstetrician will generally take notice of the abnormalities in the newborn and call upon a neonatologist to examine the infant for any immediate health complications. For this reason, if you are a pregnant woman, with a risk for carrying the genetic code for Aarskog syndrome, it is important to undergo prenatal genetic counseling so as to be prepared for any potential health complications your child may have at birth and, additionally, enlist the service of the appropriate healthcare team early.