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|
|Abnormality of the pleura||0002103|
|Anterior beaking of lower thoracic vertebrae||0004607|
|Anterior beaking of lumbar vertebrae||0008430|
Accumulation of fluid in the abdomen
|Coarse facial features||
Coarse facial appearance
Flat facial shape
Mental retardation, nonspecific
Mental-retardation[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the hip bone||
Abnormality of the hips
Speckled calcifications in end part of bone
Stiff joints[ more ]
Increased spleen size
|5%-29% of people have these symptoms|
Wide rib cage
Decreased length of neck
|Percent of people who have these symptoms is not available through HPO|
|Abnormal heart valve morphology||0001654|
|Dermatan sulfate excretion in urine||0008301|
Hearing defect[ more ]
|Hypoplasia of the odontoid process||0003311|
|J-shaped sella turcica||0002680|
Increased size of skull
Large head circumference[ more ]
|Narrow greater sacrosciatic notches||0003375|
|Postnatal growth retardation||
Growth delay as children
|Proximal tapering of metacarpals||
Pointed innermost long bone of hand
Decreased body height
Small stature[ more ]
|Urinary glycosaminoglycan excretion||0003541|
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.
Learn more orphan products.
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.
FDA Approves Treatment for Rare Genetic Enzyme Disorder
January 23, 2018
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
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.