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
Downturned mouth[ more ]
Decreased length of nose
Shortened nose[ more ]
|Thin vermilion border||
Decreased volume of lip
Thin lips[ more ]
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.
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.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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, firstname.lastname@example.org@mail.nih.gov
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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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