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|
|Chronic otitis media||0000389|
|Intellectual disability, moderate||0002342|
|Neurological speech impairment||
|30%-79% of people have these symptoms|
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder
Acid reflux disease
Increased size of forehead
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
Increased size of skull
Large head circumference
Decreased breadth of face
Decreased width of face
|5%-29% of people have these symptoms|
|Cerebral cortical atrophy||0002120|
|Dilatation of the ascending aorta||0005111|
|Mitral valve prolapse||0001634|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal head movements||0002457|
|Coarse facial features||
Coarse facial appearance
|Periventricular gray matter heterotopia||0007165|
|Poor eye contact||0000817|
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.
Gordon Research Conferences CAG Triplet Repeat Disorders and the associated Graduate Research Seminar
Saturday, June 22, 2013 -
Friday, June 28, 2013
Location: Waterville Valley Resort, Waterville Valley, NH
Description: The 2013 Gordon Research Conference on CAG Triplet Repeat Disorders will bring together top scientists from around the world to discuss high-impact, interdisciplinary research on CAG Triplet Repeat Disorders. The objective of the conference is to promote scientific discussion and facilitate interdisciplinary exchange by bringing leading researchers in the field together with a broad range of experts representing; clinicians, diagnosticians, neurobiologists, pathologists, geneticists and molecular biologists.
Contact: Miles Fabian(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Outcome Measures for Clinical Trials in Children with Fragile X Syndrome – Part II Thursday, November 5, 2009 -
Friday, November 6, 2009
Location: Bethesda Marriott Pooks Hill, Bethesda, MD
Description: The goals of the first meeting were to (1) describe outcome measures for safety and efficacy when treating children with FXS, (2) assess validation of those measures for clinical studies, and (3) describe approaches for preclinical toxicology studies to define efficacy and safety.
Contact: Tiina K. Urv, Ph.D., NICHD(301) email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development
2009 Triplet Repeat Disorders Gordon Conference
Sunday, May 31, 2009 -
Friday, June 5, 2009
Location: Waterville Valley, NH
Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session.
Contact: Dr. Margaret Sutherland, NINDS 301-496-5680
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
If a child might have had this disorder and was never diagnosed, how does it affect him or her in adulthood? See answer
Are individuals with Fragile X syndrome at a higher risk for fractures than individuals without Fragile X? See answer
My daughter's father's sister had a son with fragile X syndrome. We are concerned about whether the gene was carried by her father and may have been passed down to her. Should my daughter be concerned about this before she starts a family? See answer
Is genetic testing available for Asperger syndrome? Is fragile X syndrome associated with Asperger syndrome? See answer