The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Depressed nasal ridge | Very frequent (present in 80%-99% of cases) |
| Downturned corners of mouth | Very frequent (present in 80%-99% of cases) |
| Epicanthus | Very frequent (present in 80%-99% of cases) |
| Long philtrum | Very frequent (present in 80%-99% of cases) |
| Narrow mouth | Very frequent (present in 80%-99% of cases) |
| Omphalocele | Very frequent (present in 80%-99% of cases) |
| Short nose | Very frequent (present in 80%-99% of cases) |
| Thin vermilion border | Very frequent (present in 80%-99% of cases) |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Third Conference of the MENA Initiative: Future Directions in Developmental Disabilities: Prevention, Screening, and Treatment
Tuesday, April 27, 2010 -
Thursday, April 29, 2010
Location:
Doha,
Qatar
Description: The goals of the meeting were to enhance prevention, screening, and treatment of developmental disabilities in the Middle East and North Africa (MENA) and to develop partnerships for building regional resources that will support patient treatment and research collaboration. This included expanding the conditions that had been addressed in the previous conferences to include neurosensory and neurodevelopmental conditions in addition to metabolic conditions.
Contact: Danuta Krotoski, krotoskd@mail.nih.govkrotoskd@mail.nih.gov
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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¿Cómo se puede prevenir el síndrome de valproato fetal? See answer
My child may have fetal valproate syndrome. I'd like to learn more about this syndrome including how it is diagnosed, its symptoms, and treatment. See answer
