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 |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Anterior beaking of lumbar vertebrae | 0008430 | |
| Brachycephaly | 0000248 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Dysostosis multiplex | 0000943 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized hyperkeratosis | 0005595 | |
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Lipoatrophy | 0100578 | |
| Mucopolysacchariduria | 0008155 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the gallbladder | 0005264 | |
| Corneal opacity | 0007957 | |
| Decreased muscle mass |
Underdeveloped muscles
|
0003199 |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Seizure
|
0001250 | |
| Spastic tetraplegia | 0002510 | |
| Vascular skin abnormality | 0011276 | |
| 5%-29% of people have these symptoms | ||
| Abnormal pyramidal signs | 0007256 | |
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormalities
Dental abnormality
[ more ]
|
0000164 |
| Abnormality of the nail | 0001597 | |
| Acrocyanosis | 0001063 | |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the abdominal wall | 0004298 | |
| Absent/hypoplastic coccyx |
Absent/small tailbone
Absent/underdeveloped tailbone
[ more ]
|
0008436 |
| Absent/hypoplastic paranasal sinuses | 0005453 | |
| Angiokeratoma | 0001014 | |
| Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ]
|
0000970 |
| Anterior beaking of thoracic vertebrae | 0004630 | |
| 0000007 | ||
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Cervical platyspondyly | 0004558 | |
| Coxa valga | 0002673 | |
| Dry skin | 0000958 | |
| Elevated sweat chloride | 0012236 | |
| Flexion |
0001371 | |
| Frontal bossing | 0002007 | |
| Hernia | 0100790 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Lumbar hyperlordosis | 0002938 | |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Oligosacchariduria | 0010471 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
|
Abnormal curving of the spine
|
0002650 | |
| Shield chest | 0000914 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Tortuosity of conjunctival vessels | 0000503 | |
| Vacuolated |
0001922 | |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy,
Andover,
NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
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.
