What Are the Facial Characteristics of Fetal Alcohol Syndrome?

Patient Presentation
A 15-year-old female comes to the developmental pediatric clinic for a second opinion about fetal alcohol syndrome, attention deficit disorder and school problems. Her academic difficulties began in the Head Start program and continue today with global academic problems. She also suffers from severe inattention in multiple settings.
Previously she received special education help in a separate classroom with similar children. This academic year, she receives extra help in a regular classroom. She was recently suspended for refusing to do any work at school and is more non-compliant at home also.
Her past medical history reveals that her mother drank alcohol before and during pregnancy, and is a recovering alcoholic currently. She has been treated with short-acting methylphenidate (RitalinTM) for her inattention with some symptom relief.
The family history is positive for alcoholism, attention deficit disorder and learning disabilities.
During the physical exam she is fidgety, impulsive and easily distracted. Her growth parameters are at the 25%. Her face has an thin upper lip, flat philtrum and is somewhat ‘fish-mouthed.” Her ears are flat with a enlarged helix. She has abnormal palmar creases and short fifth metacarpals. She is slightly hypotonic.
Her neurodevelopmental evaluation shows her with impulsivity and distractability. She had weaknesses in fine motor function, receptive and expressive language, temporal sequential organization and visual processing. Her strength is in gross motor skills.
Her educational evaluation reveals global learning problems including attention, language, visual spatial orientation and temporal sequential organization. She is behind 1-2 grade levels academically in all subjects.
Her psychologic screening shows no depression and she readily acknowledges her problems. She is frustrated by the lack of help at school.

The diagnosis of fetal alcohol syndrome, attention deficit disorder, and global learning disabilities was confirmed. Recommendations for improved medical management of attention deficit disorder, academic intervention and psychosocial supports were given and were being put into place at follow-up.

Fetal alcohol syndrome (FAS) is a group of behavioral, neurological and physical birth defects associated with maternal alcohol abuse during pregnancy. In general, the amount of alcohol and the timing during gestation are associated with the severity of the syndrome.

Neurological abnormalities vary from severe to minimal and include microcephaly, developmental delays, neurobehavioral disorder, memory loss, hyperactivity, and diminished cognition.
Other problems include sleep disorders, information processing problems, and sensory integration problems. These problems can be life-long.

The differential diagnosis includes Cornelia de Lange syndrome, Noonan Syndrome, maternal phenylketonuria, and fetal hydantoin syndrome.

There is no specific test for FAS. Treatment includes neuropsychological and educational assessments to imnprove educational, behavioral, and social skills.

Attention Deficit Disorder with and without Hyperactivity (ADHD) is a common behavioral problem in childhood. It is a group of behaviors that appear early in life and typically persist. The general categories include hyperactivity, inattentiveness and impulsivity. The Diagnostic and Statistical Manual of Mental Disorders 4th Edition has specific criteria for its diagnosis, but each child has a different symptom constellation.
The cause of ADHD is not known but genetic, central nervous system, and environmental factors may all play a part. Often other problems are associated with ADHD including developmental disorders (e.g. speech and language problems or academic problems), mental retardation, oppositional defiant disorder, conduct disorder, and anxiety disorder.
Treatment is a multimodal approach specifically tailored to the individual and may include behavioral and psychosocial supports, appropriate educational placement and medications such as stimulants.

People with learning disorders (LD) have normal cognitive abilities but specific problems with types of learning or information processing. LD can occur alone but often are found as co-morbid conditions. They affect ~5% of children enrolled in United States schools. Each child’s problem constellation is unique.

LD include:

  • Dyslexia – language processing
  • Dyscalculia – math skills
  • Dysgraphia – written expression
  • Dyspraxia – fine motor skills
  • Spelling problems
  • Auditory processing disorder – interpreting auditory information
  • Visual processing disorder – interpreting visual information
  • Verbal processing disorder – interpreting and using verbal information
  • ADHD (some people include this as an LD or categorize it as a related problem)

Learning Point
Characteristic facial features of FAS includes microophthalmia, short palpebral fissures, flat philtrum, thin upper lip, scooped nose, wide nasal bridge, and wide set ears. Some of these features are very subtle and maybe only apparent with age (2-3 years) but may be decreased by adolescence.

Figure 7 – 01-10-05 – Diagram showing the craniofacial features associated with fetal alcohol syndrome from the National Institute on Alcohol Abuse and Alcoholism.

All growth parameters are decreased with weight more affected than height in childhood. Expected adult height is often not obtained. Other physical stigmata include: abnormal position or function of joints, altered palmar creases, small fifth fingers and nails, cardiac anomalies especially ventricular septal defects, ptosis, cleft lip and/or palate, micrognathia, large ears, short or webbed neck, vertebral and rib anomalies, meningomyelocoele, hydrocephalus, and hypoplastic labia majora.

Questions for Further Discussion
1. What educational interventions can be implemented in the classroom for children with ADHD?
2. What is Public Law 504 and how does it relate to children with disabilities?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Information prescriptions for patients can be found at Pediatric Common Questions, Quick Answers for this topic: Fetal Alcohol Syndrome.

Jones KL. Smith’s Recognizable Patterns of Human Malformation. 4th Edit. W.B. Saunders. 1988:491-494.

Morse BA, Weiner L. Fetal Alcohol Syndrome in Behavioral and Developmental Pediatrics: A Handbook for Primary Care. Parker S, Zuckerman B. eds. Little, Brown and Company, Boston, MA. 1995:149-152.

LD At a Glance. National Center for Learning Disorders.
Available from the Internet at <a href="http://www.merck.com/mrkshared/mmanual/section19/chapter262/262c.jsphttp://www.merck.com/mrkshared/mmanual/section19/chapter262/262c.jsp (cited 12/16/04).

Learning Disorders. Merck Manual
Available from the Internet at <a href="http://www.ld.org/LDInfoZone/InfoZone_FactSheetIndex.cfmhttp://www.ld.org/LDInfoZone/InfoZone_FactSheetIndex.cfm (cited 12/16/04).

DSM-IV-TR: Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. BehaveNet.
Available from the Internet at <a href="http://www.behavenet.com/capsules/disorders/dsm4tr.htmhttp://www.behavenet.com/capsules/disorders/dsm4tr.htm (cited 12/16/04).

Donna M. D’Alessandro, MD
Associate Professor of Pediatrics, Children’s Hospital of Iowa

January 10, 2005