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 nervous system morphology||
Abnormal shape of nervous system
|Abnormality of the thorax||
Abnormality of the chest
|Coarse facial features||
Coarse facial appearance
|Failure to thrive||
Weight faltering[ more ]
|Short long bone||
Long bone shortening
Decreased body height
Small stature[ more ]
Increased spleen size
|30%-79% of people have these symptoms|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Prominent eye folds[ more ]
|Lack of skin elasticity||0100679|
|5%-29% of people have these symptoms|
|Abnormal heart valve morphology||0001654|
|Broad alveolar ridges||0000187|
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
|Congestive heart failure||
Heart failure[ more ]
Round back[ more ]
|Opacification of the corneal stroma||0007759|
|Progressive alveolar ridge hypertropy||
Increasing size of gum ridge
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the rib cage||0001547|
|Beaking of vertebral bodies T12-L3||0004562|
|Bullet-shaped phalanges of the hand||
Bullet-shaped hand bones
Increased heart size[ more ]
|Death in childhood||0003819|
|Deficiency of N-acetylglucosamine-1-phosphotransferase||0003264|
|Flared iliac wings||0002869|
|Flat acetabular roof||0003180|
|Global developmental delay||0001263|
Dislocation of hip[ more ]
Husky voice[ more ]
Enlarged and thickened heart muscle
|Hypoplasia of the odontoid process||0003311|
Small shoulder blade
|Increased serum beta-hexosaminidase||0003333|
|Increased serum iduronate sulfatase activity||0003538|
|Large sella turcica||
Big sella turcica
|Lower thoracic interpediculate narrowness||0008470|
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Broad wide portion of long bone
Decreased width of the forehead
Low muscle tone, in neonatal onset
|Ovoid vertebral bodies||0003300|
Fullness of eyelids
Swelling of eyelids[ more ]
|Recurrent otitis media||
Recurrent middle ear infection
|Severe postnatal growth retardation||
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure[ more ]
|Sparse and thin eyebrow||
Thin, sparse eyebrows
Claw hand deformities
Split-hand[ more ]
Clubfoot[ more ]
Increased thickness of skull cap
Thickened skull cap[ more ]
|Varus deformity of humeral neck||0006362|
|Wide intermamillary distance||
Widely spaced nipples
Widely-spaced nipples[ more ]
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.
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Hurler syndrome; GM1 gangliosidosis type 1; the infantile form of galactosialidosis; sialidosis type 2; free sialic acid storage disease, infantile form; hypocalcemic rickets; and ML III. Pacman dysplasia (see these terms) is in many instances the prenatal expression of ML II.
Visit the Orphanet disease page for more information.
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.
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
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