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.

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more