The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the thorax||90%|
|Coarse facial features||90%|
|Morphological abnormality of the central nervous system||90%|
|Depressed nasal bridge||50%|
|Lack of skin elasticity||50%|
|Abnormality of the heart valves||7.5%|
|Abnormality of the wrist||7.5%|
|Broad alveolar ridges||7.5%|
|Congestive heart failure||7.5%|
|Recurrent respiratory infections||7.5%|
|Abnormality of the rib cage||-|
|Autosomal recessive inheritance||-|
|Beaking of vertebral bodies T12-L3||-|
|Bullet-shaped phalanges of the hand||-|
|Carpal bone hypoplasia||-|
|Death in childhood||-|
|Deficiency of N-acetylglucosamine-1-phosphotransferase||-|
|Failure to thrive||-|
|Flared iliac wings||-|
|Flat acetabular roof||-|
|Hypoplasia of the odontoid process||-|
|Increased serum beta-hexosaminidase||-|
|Increased serum iduronate sulfatase activity||-|
|Large sella turcica||-|
|Lower thoracic interpediculate narrowness||-|
|Opacification of the corneal stroma||-|
|Ovoid vertebral bodies||-|
|Progressive alveolar ridge hypertropy||-|
|Recurrent otitis media||-|
|Severe global developmental delay||-|
|Severe postnatal growth retardation||-|
|Short long bone||-|
|Varus deformity of humeral neck||-|
|Wide intermamillary distance||-|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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 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