Fetal valproate syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Valproic acid embryopathy; Susceptibility to valproate embryopathy; FVS;
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
The U.S. Food and Drug Administration (FDA) advises that valproate and related products should not be taken by women for the prevention of migraine headaches during pregancy. With regard to valproate use in pregnant women with epilepsy or bipolar disorder, valproate products should only be prescribed if other medications are not effective in treating the condition or are otherwise unacceptable. However, it is important to note that women who are pregnant and taking a valproate medication should not stop their medication but should talk to their doctor or other trusted medical professional immediately. Stopping valproate treatment suddenly can cause serious and life-threatening medical problems to the woman or her baby. For example, the sudden discontinuation of valproate in pregnant women with
The FDA suggests a pregnant woman taking valproate or other anti-seizure medication should talk to her doctor or other trusted medical professional about registering with the North American Antiepileptic Drug Pregnancy Registry. The purpose of this registry is to collect information about the safety of anti-seizure medications during pregnancy. A pregnant woman taking anti-seizure medication can enroll in this registry by calling 1-888-233-2334. You can read more about the registry on the North American AED (Antiepileptic Drug) Pregnancy Registry website.
- Characteristic facial features such as a high, broad forehead; skin of the upper eyelid covering the inner corner of the eye (epicanthal folds); thin, arched, wide-spaced eyebrows; a small, upturned nose with a wide bridge; a long, shallow midline groove between upper lip and nose (philtrum); and a thick lower lip. These features may become less noticeable over time.
- Spina bifida or other birth defects of the brain, spine, or spinal cord (also called neural tube defects)
Congenital heart defects Cleft lipand/or cleft palate
- Genital abnormalities most commonly undescended testicles and/or the opening of the urethra forms on the underside of the penis (hypospadias) rather than the tip
- Skeletal abnormalities most commonly overlapping, long fingers; abnormalities of the feet such as club foot; rib cage abnormalities; stiff or tight joints (joint
contractures); and nail abnormalities Developmental delay, attention deficit disorder, learning disabilities, behavior problems, autism spectrum disorder, and/or communication problems
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Depressed nasal ridge||
Recessed nasal ridge
[ more ]
|Downturned corners of mouth||
Downturned corners of the mouth
[ more ]
Prominent eye folds
[ more ]
Decreased length of nose
[ more ]
|Thin vermilion border||
Decreased volume of lip
[ more ]
Birth defectssuch as spina bifida and other neural tube defects, congenital heart defects, and cleft lipand/or cleft palatemay require surgery shortly after birth
- Long-term follow-up to detect and treat early behavioral or developmental issues
- Early speech therapy, occupational therapy, and/or
- Extra assistance at school
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other types of AED-related embryofetopathies (e.g. fetal hydantoin syndrome) and fetal alcohol syndrome (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MotherToBaby is a service of the non-profit Organization of Teratology Information Specialists (OTIS), a leading authority on information regarding the safety of medications and other exposures during pregnancy and breastfeeding. They can be reached directly by calling 1-866-626-6847.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fetal valproate syndrome. Click on the link to view a sample search on this topic.
- Fetal valproate syndrome. Orphanet. November 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906.
- Mutlu-Albayrak H, Bulut C, Çaksen H. Fetal Valproate Syndrome. Pediatr Neonatol. June 2016; pii: S1875-9572(16):300072-9. https://www.pediatr-neonatol.com/article/S1875-9572(16)30072-9/fulltext.
- Ornoy A.. Valproic acid in pregnancy: how much are we endangering the embryo and fetus. Reprod Toxicol. July 2009; 28(1):1-10. https://www.ncbi.nlm.nih.gov/pubmed/19490988.
- FDA Drug Safety Communication: Valproate Anti-seizure Products Contraindicated for Migraine Prevention in Pregnant Women due to Decreased IQ Scores in Exposed Children. US Food and Drug Administration (FDA). February, 2016; https://www.fda.gov/Drugs/DrugSafety/ucm350684.htm.