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 | Learn More: HPO ID |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Aplastic |
0001915 | |
| 0000007 | ||
| Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Epiphora |
Increased tears
Tearing
Watery eyes
[ more ]
|
0009926 |
| Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
| Hepatic fibrosis | 0001395 | |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
| Oral leukoplakia |
Oral white patch
|
0002745 |
| 0000939 | ||
| Pterygium | 0001059 | |
| Pterygium of nails | 0002165 | |
| Pulmonary fibrosis | 0002206 | |
| Small nail |
Small nails
|
0001792 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Sparse scalp hair |
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
|
Low platelet count
|
0001873 | |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
The Helicase and Nucleic Acid-based Machine Conference
Sunday, July 21, 2019 -
Friday, July 26, 2019
Location: The Steamboat Grand,
Steamboat Springs,
CO
Description: Malfunctions of helicases and nucleic acid-based machines are implicated in a number of rare genetic disorders. Specifically, hereditary mutations in helicase genes are linked to rare diseases including Werner Syndrome, Bloom’s Syndrome, Rothmund-Thomson Syndrome, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, Warsaw Breakage Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Crohn’s Disease, Ophthalmoplegia, and others. This FASEB meeting, which was first held in 2001, examines the roles of these and related helicases in genome metabolism and rare diseases. The meeting is the only one of its kind to focus on the functions, interactions and structures of helicases and helicase-like motors as components of fundamentally important supramolecular machines, and it explores their regulation and key roles in uncommon genetic disorders characterized by defects in DNA repair and genomic stability. The conference brings together a diverse group of academic and industry scientists who focus on the functional roles of helicases and helicase-like motors in pathways of nucleic acid metabolism.
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