Orpha Number: 85174
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|
Dislocations of the elbows
Elbow dislocations[ more ]
Clubfoot[ more ]
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Percent of people who have these symptoms is not available through HPO|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Failure to thrive||
Weight faltering[ more ]
|Hypoplasia of the odontoid process||0003311|
Decreased size of midface
Underdevelopment of midface[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
Short stature, severe[ more ]
Decreased length of neck
|Tongue-like lumbar vertebral deformities||0005680|
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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