Fetal Alcohol syndrome (FAS)

Overview

Fetal Alcohol syndrome is caused when a fetus is exposed to alcohol during the pregnancy. It causes damage to both growth and brain development.

Characteristics of the syndrome include distinct and unique facial features, a short stature, low weight at birth, and continued low growth, as well as issues with coordination, learning, and development.

What gene change causes Fetal Alcohol Syndrome (FAS)?

The syndrome is not caused by a change in a gene, it is caused by exposure to the fetus to alcohol during pregnancy. The effects are irreversible and may vary in their severity.

Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.

What are the main symptoms of Fetal Alcohol Syndrome (FAS)?

The main symptoms of the syndrome include a low birth weight and a failure to thrive which affects growth development. Behavioral and learning issues are also major symptoms including hyperactivity, impulsiveness, and anxiety.

Facial and physical characteristics include short stature, small eye openings, a thin upper lip, and smooth philtrum.

Other health conditions may include heart, bone, and kidney problems. Issues with vision and hearing, seizures, poor balance and coordination.

Possible clinical traits/features:
Facial flushing after alcohol intake, Reduced acetaldehyde dehydrogenase level.

How is it diagnosed?

To find out if someone has a diagnosis of Fetal Alcohol Syndrome (FAS), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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