Fetal Alcohol Syndrome: Symptoms, Types, Causes and Treatment

Fetal Alcohol Syndrome (FAS) is a preventable yet profoundly impactful condition caused by prenatal exposure to alcohol. Characterized by a range of physical, neurological, and behavioral abnormalities, FAS and its related disorders represent the most common preventable cause of neurodevelopmental disability worldwide. Understanding its symptoms, types, causes, and treatment options is crucial for families, healthcare providers, and communities alike.

Symptoms of Fetal Alcohol Syndrome

Recognizing the symptoms of Fetal Alcohol Syndrome is the first step toward early intervention and support. FAS manifests with a complex array of features, affecting physical growth, facial appearance, the central nervous system, and behavior. While the severity and specific symptoms may vary, certain hallmark signs are commonly present.

Growth	Facial Features	Neurological Impacts	Source
Prenatal and postnatal growth deficiency	Short palpebral fissures, smooth philtrum, thin upper lip	Intellectual disability, attention deficits, poor executive function	5 6 8 10 12 18
Microcephaly	Wide-set eyes, telecanthus, ptosis	Motor skill delays, hyperactivity, impulsivity	1 3 4 5 12
Low birth weight	Flat midface, small chin	Learning and memory problems, language delays	3 5 9 12
Stunted height	Strabismus, microphthalmia, ocular anomalies	Seizures, behavioral issues, social difficulties	2 4 5 18

Table 1: Key Symptoms

Physical Manifestations

FAS often presents with distinctive facial anomalies, including short horizontal palpebral fissures (eye openings), a smooth or flattened philtrum (the groove between the nose and upper lip), and a thin upper lip. Other facial features may include telecanthus (wide-set eyes), ptosis (drooping eyelids), and micrognathia (small chin). Growth restriction is another prominent feature, with affected children typically displaying low birth weight, shorter stature, and failure to thrive postnatally 5 6 10 18.

Eye and Vision Issues

The eyes are particularly vulnerable to prenatal alcohol exposure. Ocular symptoms can include strabismus (misalignment of the eyes), microphthalmia (abnormally small eyes), optic nerve hypoplasia, increased tortuosity of retinal vessels, cataracts, lens opacification, and impaired vision. These abnormalities contribute to visual difficulties and may persist throughout life 1 4 5.

Neurological and Behavioral Symptoms

FAS is most devastating in its impact on brain development. Microcephaly (small head circumference) is common, reflecting underlying structural brain abnormalities such as reduced corpus callosum volume, altered gray matter, and abnormal brain asymmetry. Neuropsychological impairments include:

• Intellectual disability or lower IQ
• Learning and memory deficits
• Poor executive functioning
• Motor skill delays
• Hyperactivity and impulsivity
• Attention deficits
• Social and communication difficulties

Behavioral symptoms may resemble those seen in ADHD and autism spectrum disorders. Infants can even exhibit withdrawal symptoms, such as irritability, tremors, and seizures, shortly after birth 2 3 9 12 18.

Comorbid Conditions

A high percentage of individuals with FAS have additional diagnoses:

• ADHD (40%)
• Speech and language disorders (30%)
• Sensory impairments (30%)
• Learning disorders (25%)
• Epilepsy (8-10%)
• Cerebral palsy (4%)
• Mental retardation (15–20%) 18

These comorbidities further complicate management and increase the need for multidisciplinary care.

Types of Fetal Alcohol Syndrome

Fetal Alcohol Syndrome is part of a broader continuum known as Fetal Alcohol Spectrum Disorders (FASD). Understanding the different types helps clarify the range and variability of effects resulting from prenatal alcohol exposure.

Type	Diagnostic Features	Severity	Source
FAS (full)	Growth deficiency, facial anomalies, CNS dysfunction	Most severe	6 8 9 10
Partial FAS	Some facial anomalies, neurodevelopmental impairment, +/- growth issues	Moderate	6 8 10
ARND	Neurodevelopmental deficits without facial/growth findings	Variable	6 8 9 10
ARBD	Birth defects (heart, kidney, etc.) linked to alcohol, with/without neurobehavioral symptoms	Variable	6 10 13

Table 2: FASD Types

Fetal Alcohol Syndrome (FAS)

This is the most severe manifestation and is diagnosed based on the presence of all three core features:

• Growth retardation
• Distinctive facial anomalies
• Central nervous system dysfunction (including structural, neurological, or functional abnormalities)

A confirmed history of prenatal alcohol exposure strengthens the diagnosis but is not always required if the characteristic signs are present 6 8 10.

Partial Fetal Alcohol Syndrome (pFAS)

Partial FAS is diagnosed when only some of the features of FAS are present—typically a combination of facial anomalies and neurodevelopmental impairment, with or without growth deficiency. This type represents cases where the full syndrome does not manifest but significant impairment is evident 6 8 10.

Alcohol-Related Neurodevelopmental Disorder (ARND)

ARND refers to individuals with neurodevelopmental deficits (such as problems with behavior, learning, or executive function) linked to prenatal alcohol exposure, but without the classic facial or growth abnormalities. This type is often underdiagnosed due to the absence of physical markers 6 8 9 10.

Alcohol-Related Birth Defects (ARBD)

ARBD covers a range of structural malformations in organs such as the heart, kidneys, bones, and eyes, attributed to prenatal alcohol exposure. These defects may or may not occur alongside neurodevelopmental symptoms 6 10 13.

The FASD Continuum

The concept of FASD as a spectrum underscores the reality that the effects of prenatal alcohol exposure exist along a continuum. Individuals may present with varying degrees of physical, cognitive, and behavioral problems, depending on the timing, amount, and pattern of alcohol exposure as well as genetic and environmental factors 8 9 10.

Causes of Fetal Alcohol Syndrome

At its core, Fetal Alcohol Syndrome is entirely preventable: it results from alcohol consumption during pregnancy. However, the mechanisms and risk factors involved are complex and multifaceted.

Cause	Mechanism/Effect	Risk Factors	Source
Maternal alcohol use	Direct teratogenic effect on fetus	Amount, timing, binge drinking	6 11 17 18
Genetic susceptibility	Variability in alcohol metabolism, enzyme activity	Genetic polymorphisms	17
Maternal environment	Increased vulnerability with poor nutrition, low SES	Smoking, poor prenatal care	6 17
Paternal factors	Epigenetic changes, sperm quality	Chronic alcohol use	17

Table 3: Causes and Risk Factors

Alcohol as a Teratogen

Alcohol is a potent teratogen—a substance that disrupts the normal development of the fetus. When a pregnant individual consumes alcohol, it crosses the placenta and exposes the developing baby to the same concentrations as the mother. The fetus, however, lacks the ability to efficiently metabolize alcohol, making its developing organs (especially the brain) highly susceptible to damage 6 17.

Timing, Amount, and Pattern of Exposure

• Any trimester is risky, but first-trimester exposure is especially harmful due to the critical stages of organ and brain formation.
• Binge drinking (consuming large amounts at one time) and chronic heavy drinking both increase risk.
• There is no known safe level of alcohol during pregnancy 6 11 17 18.

Biological Mechanisms

Alcohol disrupts fetal development through multiple pathways:

• Generation of reactive oxygen species leading to oxidative stress
• Mitochondrial damage and lipid peroxidation
• Inhibition of cell adhesion, interfering with normal tissue formation
• Placental vasoconstriction reducing fetal blood flow
• Interference with nutrients and cofactors necessary for growth
• Epigenetic changes affecting gene expression and long-term development 17

Risk Factors

• Genetic susceptibility: Variations in maternal and fetal alcohol-metabolizing enzymes can influence risk.
• Maternal characteristics: Poor nutrition, lower socioeconomic status, and concurrent tobacco use can increase vulnerability.
• Paternal factors: Emerging evidence suggests that chronic paternal alcohol use may contribute epigenetically 6 17.

Prevalence

Alcohol consumption during pregnancy is unfortunately common, with global estimates around 9.8%. Prevalence of FAS varies but is estimated at 14.6 per 10,000 globally, with higher rates in some communities. In the US, conservative estimates suggest 1.1% to 5% of children may have FASD 7 11.

Treatment of Fetal Alcohol Syndrome

While there is no cure for Fetal Alcohol Syndrome, early intervention and comprehensive support can dramatically improve outcomes. Treatment focuses on optimizing development, managing behavioral difficulties, and supporting affected families.

Approach	Focus Area	Examples/Outcomes	Source
Early intervention	Developmental optimization	Special education, therapy, EI	6 14 18
Behavioral therapy	Executive function, behavior	Neurocognitive habilitation, social skills	15
Medical management	Comorbidities, symptom relief	Seizure control, vision correction	1 4 5 18
Nutritional/Pharmacologic	Neurodevelopmental support	Choline, antioxidants, folic acid	16 17
Family support	Education, advocacy	Parent training, support groups	6 14 18
Prevention	Stopping alcohol use in pregnancy	Education, screening, brief intervention	6 14 17

Table 4: Treatment and Support Strategies

Early Identification and Intervention

Early recognition of FAS is critical. The earlier children receive targeted developmental and behavioral interventions, the better their chances for improved outcomes. Interventions may include:

• Early childhood special education
• Speech, occupational, and physical therapy
• Individualized education plans (IEP) at school 6 14 18

Behavioral and Neurocognitive Therapies

Structured behavioral therapies help address executive function deficits, emotional regulation, and social skills. Group-based neurocognitive habilitation programs have shown effectiveness in improving executive functioning and emotional problem-solving skills in children with FASD 15.

Medical and Therapeutic Management

Management of medical and neurological complications is essential:

• Treatment of seizures or epilepsy
• Correction/management of vision problems (e.g., glasses, surgery for strabismus or cataracts)
• Addressing hearing, cardiac, or renal defects as needed 1 4 5 18

Nutritional and Pharmacological Interventions

Research into nutritional supplements and pharmacologic agents is ongoing. Choline supplementation in early childhood has demonstrated some improvements in non-verbal intelligence, visual-spatial skills, working memory, and behavioral symptoms. Other experimental approaches include prenatal antioxidants and neurotrophic factors, but none are yet standard of care 16 17.

Family and Social Support

Families benefit from education, advocacy, and connection to support groups. Parenting training and respite services can help caregivers manage the unique challenges posed by FASD 6 14 18.

Prevention

The only foolproof way to prevent FAS is to avoid alcohol during pregnancy. Prevention strategies include:

• Universal screening for alcohol use in all women of childbearing age
• Education about risks prior to and during pregnancy
• Brief interventions and referral to treatment for those unable to abstain
• Community-based and culturally sensitive education initiatives 6 14 17

Conclusion

Fetal Alcohol Syndrome remains a challenging public health issue, but it is one that is entirely preventable. Through awareness, early detection, and comprehensive support, we can improve the lives of those affected and reduce new cases.

Key Points:

• FAS is characterized by growth deficiency, distinctive facial features, central nervous system dysfunction, and a spectrum of behavioral and cognitive impairments 5 6 8 10 18.
• FAS is part of a wider continuum known as FASD, which also includes partial FAS, ARND, and ARBD, with varying degrees of severity 6 8 9 10.
• The sole cause of FAS is alcohol consumption during pregnancy, though risk is influenced by genetic, environmental, and social factors 6 11 17.
• There is no cure, but early intervention, behavioral therapies, medical management, and family support can improve outcomes 6 14 15 16 18.
• Prevention through abstinence from alcohol during pregnancy is essential and requires ongoing education and public health efforts 6 11 14 17.

By expanding our understanding of FAS and implementing effective prevention and support strategies, we can reduce its impact for future generations.