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) |
| Anterior beaking of lumbar vertebrae | Very frequent (present in 80%-99% of cases) |
| Brachycephaly | Very frequent (present in 80%-99% of cases) |
| Coarse facial features | Very frequent (present in 80%-99% of cases) |
| Dysostosis multiplex | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Generalized hyperkeratosis | Very frequent (present in 80%-99% of cases) |
| Hearing impairment | Very frequent (present in 80%-99% of cases) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Hyperhidrosis | Very frequent (present in 80%-99% of cases) |
| Hypothyroidism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Kyphosis | Very frequent (present in 80%-99% of cases) |
| Lipoatrophy | Very frequent (present in 80%-99% of cases) |
| Mucopolysacchariduria | Very frequent (present in 80%-99% of cases) |
| Prominent forehead | Very frequent (present in 80%-99% of cases) |
| Abnormality of the gallbladder | Frequent (present in 30%-79% of cases) |
| Corneal opacity | Frequent (present in 30%-79% of cases) |
| Decreased muscle mass | Frequent (present in 30%-79% of cases) |
| Muscular |
Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Spastic tetraplegia | Frequent (present in 30%-79% of cases) |
| Vascular skin abnormality | Frequent (present in 30%-79% of cases) |
| Abnormal pyramidal signs | Occasional (present in 5%-29% of cases) |
| Abnormality of the dentition | Occasional (present in 5%-29% of cases) |
| Abnormality of the nail | Occasional (present in 5%-29% of cases) |
| Acrocyanosis | Occasional (present in 5%-29% of cases) |
| Cardiomegaly | Occasional (present in 5%-29% of cases) |
| Abnormality of the abdominal wall | - |
| Absent/hypoplastic coccyx | - |
| Absent/hypoplastic paranasal sinuses | - |
| Angiokeratoma | - |
| Anhidrosis | - |
| Anterior beaking of thoracic vertebrae | - |
| - | |
| Barrel-shaped chest | - |
| Cerebral atrophy | - |
| Cervical platyspondyly | - |
| Coxa valga | - |
| Dry skin | - |
| Elevated sweat chloride | - |
| Flexion |
- |
| Frontal bossing | - |
| Hernia | - |
| Hypertelorism | - |
| Intellectual disability | - |
| Lumbar hyperlordosis | - |
| Oligosacchariduria | - |
| Polyneuropathy | - |
| Recurrent respiratory infections | - |
| - | |
| Shield chest | - |
| Splenomegaly | - |
| Thick eyebrow | - |
| Thick lower lip vermilion | - |
| Tortuosity of conjunctival vessels | - |
| Vacuolated |
- |
| Wide nose | - |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 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
WORLD Symposium 2010 (Lysosomal Disease Network's 6th Annual Research Meeting)
Wednesday, February 10, 2010 -
Friday, February 12, 2010
Location: Miami Hilton Downtown,
Miami,
Florida
Description: The specific aims of this meeting were to (1) emphasize the strategies for, and identify the obstacles to, moving from translational research to clinical trials; (2) coalesce members of the LD network into functional research collaborations and present to the LDN community progress on the specific projects that are part of the funded U54 RDCRN grant; (3) foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; (4) provide an educational forum for young investigators, clinicians, and researchers in the field; (5) identify and discuss the latest findings in the natural history of lysosomal diseases, diagnostic testing and screening, and treatment, with specific focus on (a) inflammatory components of lysosomal diseases and autophagy, especially in the central nervous system, (b) new treatments of the central nervous systems, and (c) ethics and efficacy in treating the presymptomatic or asymptomatic patient; and (6) identify areas requiring additional basic and clinical research and public policy and regulatory attention, such as ethics and economics, and factors that impact implementation of therapy, including newborn screening.
Contact: Dr. Danilo A. Tagle(301) 496-5745tagled@mninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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