55 Kenosia Avenue
Danbury, CT 06810
Phone: 203.744.0100
Toll Free: 1.800.999.6673
http://rarediseases.org

Fetal Alcohol Syndrome

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Copyright 1987, 1989, 1997, 1998, 1999, 2000, 2002, 2003, 2007, 2009

Synonyms of Fetal Alcohol Syndrome

Disorder Subdivisions

General Discussion

Fetal alcohol syndrome (FAS) is a characteristic pattern of mental and physical birth defects that results due to maternal use of alcohol during pregnancy. The range and severity of associated abnormalities may vary greatly from case to case. However, characteristic features may include growth delays before and after birth (prenatal and postnatal growth retardation); malformations of the skull and facial (craniofacial) region; brain abnormalities; and/or additional physical findings. FAS may also be associated with varying degrees of mental retardation, learning abnormalities, and/or behavioral problems that, in some cases, may occur in the absence of obvious physical abnormalities.

Symptoms

Prenatal exposure to alcohol may have multiple effects, including miscarriage, growth deficiencies, intellectual impairment, or the specific pattern of malformations at the severe end of the spectrum known as fetal alcohol syndrome (FAS). More mildly affected infants and children may be said to manifest fetal alcohol effects (FAE).

The symptoms and findings associated with FAS may vary from case to case. However, characteristic features often include prenatal and/or postnatal growth retardation, resulting in low weight and height. Many affected newborns may also have increased irritability, an increased sensitivity to sounds (hyperacusis), abnormal muscle tone, and fine motor dysfunction, including tremulousness, a weak grasp, and poor hand-eye coordination.

Evidence indicates that FAS is a leading cause of mental retardation. The degree of intellectual impairment may vary from mild to severe. The term "microcephaly" indicates that the head circumference is smaller than would be expected for age and sex. Microcephaly is a common feature of FAS that is thought to be due to an overall decrease in brain growth. In addition, specific brain abnormalities have been reported in association with FAS, including absence of the band of nerve fibers that joins the cerebral hemispheres (corpus callosum) and underdevelopment of a region of the brain involved in coordinating voluntary movement (cerebellar hypoplasia).

Children with FAS commonly have deficits in learning skills, difficulties with problem solving and memory, and/or speech impairment. In addition, many have certain behavioral abnormalities, including hyperactivity, impaired judgment, easy distractibility, impulsiveness, and impaired social and adaptive behaviors. In some cases, such abnormalities may be present in the apparent absence of physical anomalies.

FAS may also be associated with certain facial features, such as short eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); and/or a short, upturned nose with a broad nasal bridge. Additional characteristic features may include a thin upper lip; an abnormally long, smooth vertical groove (philtrum) in the center of the upper lip; a small jaw (micrognathia); and/or flattened mid-facial regions (midfacial hypoplasia). Eye abnormalities may also be present, such as unusually small eyes (microphthalmia), drooping of the upper eyelids (ptosis), and/or abnormal deviation of one eye in relation to the other (strabismus). Reports indicate that associated facial features may sometimes be relatively subtle; in addition, they may tend to become less apparent as a child reaches puberty.

In some cases, various heart defects may also be present, particularly an abnormal opening in the partition between the lower or upper chambers of the heart (ventricular or atrial septal defects). Affected infants may also have joint abnormalities, including abnormal positioning and/or decreased range of motion. Additional physical abnormalities have also been reported in some individuals with the syndrome.

Causes

Maternal alcohol use during pregnancy can result in multiple effects on the developing embryo and fetus, including fetal alcohol syndrome (FAS). The specific amount of alcohol ingestion that may cause FAS has not been determined. However, evidence suggests that moderate and high levels of alcohol consumption during pregnancy can disrupt normal fetal growth and development. Some researchers indicate that heavy drinking throughout pregnancy may lead to more severe, wide ranging abnormalities characteristic of FAS, while occasional binge drinking at high levels may result in certain FAS features, with the specific defects dependent on the time of fetal exposure.

It is not known whether the adverse effects of alcohol during fetal development may be due to the alcohol itself or one of its by-products. In addition, the potential contributing role of other factors remains unclear, such as genetic influences affecting alcohol metabolism or additional environmental factors (e.g., maternal tobacco use). Some investigators suggest that alcohol use may impair the transfer of certain essential nutrients via the placenta, playing some role in the prenatal growth retardation characteristic of the syndrome.

Because the amount of alcohol necessary to cause FAS is unknown, it is recommended that pregnant women abstain from drinking alcohol.

Affected Populations

Researchers estimate that fetal alcohol syndrome (FAS) occurs in approximately one to two in 1,000 live births in the United States. According to reports in the medical literature, FAS is considered the primary cause of mental retardation in the Western world.

Related Disorders

Symptoms of the following disorders may be similar to those of fetal alcohol syndrome (FAS). Comparisons may be useful for a differential diagnosis:

The use of particular medications during pregnancy (e.g., hydantoin anticonvulsants) may result in certain features similar to those associated with FAS. In addition, some chromosomal disorders and genetic syndromes may also be characterized by similar symptoms and findings in some cases. (For further information on such disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)

Standard Therapies

Treatment of FAS is generally symptomatic and supportive. Early intervention is important in enabling affected children to reach their potential. Special services that may be beneficial include special education, speech therapy, physical therapy, and/or other medical, social, and/or vocational services.

Prevention of FAS is achieved by abstaining from alcohol use during pregnancy.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Fetal Alcohol Syndrome Resources

Organizations:

References

TEXTBOOKS
Behrman RE, ed. Nelson Textbook of Pediatrics, 16th ed. Philadelphia, Pa: W.B. Saunders Company; 2000:531.

Stratton KC Howe, and F. Battaglia, eds. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC:National Academy Press; 1996.

Beers MH, et al., eds. The Merck Manual. 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2035, 2158.

Adams RD, et al., eds. Principles of Neurology. 6th ed. New York, NY: McGraw-Hill, Companies; 1997:1180-81.

Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:4, 555-58.

Menkes JH, au., Pine JW, et al., eds. Textbook of Child Neurology, 5th ed. Baltimore, MD: Williams & Wilkins; 1995:604-05.

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Pubs; For: The Center for Birth Defects Information Services Inc; 1990:684-85.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:16-17.

JOURNAL ARTICLES
Randall CL. Alcohol and pregnancy: highlights from three decades of research. J Stud Alcohol. 2001;62:554-61.

Whaley SE, et al. Comparison of the adaptive functioning of children prenatally exposed to alcohol to a nonexposed clinical sample. Alcohol Clin Exp Res. 2001;25:1018-24.

Kaskutas LA, et al. Pre-pregnancy drinking: how drink size affects risk assessment. Addiction. 2001;96:1199-209.

Ikonomidou C, et al. Ethanol-induced apoptotic neurodegeneration and fetal alcohol syndrome. Science. 2000;287:1056-60.

Mattson SN, et al. Parent ratings of behavior in children with heavy prenatal alcohol exposure and IQ-matched controls. Alcohol Clin Exp Res. 2000;24:226-31.

Mattson SN, et al. Executive functioning in children with heavy prenatal alcohol exposure. Alcohol Clin Exp Res. 1999;23:1808-15.

Ebrahim SH, et al. Comparison of binge drinking among pregnant and nonpregnant women, United States, 1991-1995. Am J Obstet Gynecol. 1999;180:1-7.

Murphy-Brennan MG, et al. Is there evidence to show that fetal alcohol syndrome can be prevented? J Drug Educ. 1999;29:5-24.

Ebrahim SH, et al. Alcohol consumption by pregnant women in the United States during 1988-1995. Obstet Gynecol. 1998;92:187-92.

Olson HC, et al. Neurophsychological deficits in adolescents with fetal alcohol syndrome: clinical findings. Alcohol Clin Exp Res. 1998;22:1998-2012.

Roebuck TM, et al. Neuromuscular responses to disturbance of balance in children with prenatal exposure to alcohol. Alcohol Clin Exp Res. 1998;22:1992-97.

Swayne VW. Magnetic resonance imaging of brain anomalies in fetal alcohol syndrome. Pediatrics. 1997;99:232-40.

Spuhler-Phillips K, et al. Effects of prenatal ethanol exposure on brain region NMDA-mediated increase in intracellular calcium and the NMDAR1 subunit in forebrain. Alcohol Clin Exp Res. 1997; 21:68-75.

Kirstein CL, et al. Fetal alcohol syndrome: early olfactory learning as a model system to study neurobehavioral deficits. Int J Neurosci. 1997;89:119-32.

Hellstrom A. Fundus morphology assessed by digital image analysis in children with fetal alcohol syndrome. J Pediatr Ophthalmol Strabismus. 1997;34:17-23.

Mattson SN, et al. A decrease in the size of the basal ganglia in children with fetal alcohol syndrome. Alcohol Clin Exp Res. 1996;20:1088-93.

Mattson SN, et al. Heavy prenatal alcohol exposure with or without features of fetal alcohol syndrome leads to IQ deficits. J Pediatr. 1995;131:718-21.

Marin-Garcia J, et al. Mitochondrial dysfunction after fetal alcohol exposure. Alcohol Clin Exp Res. 1996;20:1029-32.

Reyes E, et al. Effects of buthionine sulfoximine on the outcome of the in utero administration of alcohol on fetal development. Alcohol Clin Exp Res. 1996;20:1243-51.

Streissguth AP, et al. Fetal alcohol syndrome in adolescents and adults. JAMA. 1991;265:1961-67.

Sokol RJ, et al. Guidelines for use of terminology describing the impact of prenatal alcohol on the offspring. Alcohol Clin Exp Res. 1989;13:597-98.

Morrow-Tlucak M, et al. Underreporting of alcohol use in pregnancy: relationship to alcohol problem history. Alcohol Clin Exp Res. 1989;13:399-401.

Streissguth AP, et al. Neurobehavioral effects of prenatal alcohol: Part I. Research strategy. Neurotoxicol Teratol. 1989;11:461-76.

Sampson PD, et al. Neurobehavioral effects of prenatal alcohol: Part II. Partial least squares analysis. Neurotoxicol Teratol. 1989;11:477-91.

Streissguth AP, et al. Neurobehavioral effects of prenatal alcohol: Part III. PLS analyses of neuropsychologic tests. Neurotoxicol Teratol. 1989;11:493-507.

Randall CL. Alcohol as a teratogen: a decade of research in review. Alcohol. 1987;Suppl 1:125-32.

FROM THE INTERNET
Fetal alcohol syndrome
www.mayoclinic.com/health/fetal-alcohol-syndrome/DS00184

Fetal alcohol syndrome
eMedicine - Gastroschisis -Author: Ali Nawaz Khan, MBBS, LRCP, FRCS, FRCP, FRCR,
http://www.emedicine.com/radio/topic303.htm

Report last updated: 2009/05/11 00:00:00 GMT+0