Orpha Number: 2318
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|
|Cerebellar vermis hypoplasia||0001320|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Molar tooth sign on
Increased respiratory rate or depth of breathing
|30%-79% of people have these symptoms|
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
|Low-set, posteriorly rotated ears||0000368|
Drooping upper eyelid
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of neuronal migration||0002269|
|Abnormality of the hypothalamus-pituitary axis||0000864|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Aplasia/Hypoplasia of the
Duplication of bones of the toes
|Highly arched eyebrow||
Broad, arched eyebrows
High, rounded eyebrows
Thick, flared eyebrows[ more ]
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
Renal failure in adulthood[ more ]
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Agenesis of cerebellar vermis||0002335|
|Aplasia/Hypoplasia of the cerebellar vermis||0006817|
|Dilated fourth ventricle||0002198|
Decreased muscle tone
Low muscle tone[ more ]
Fatty infiltration of liver
Fatty liver[ more ]
|Hypoplasia of the brainstem||
Underdeveloped brainstem[ more ]
|Intellectual disability, progressive||
Mental retardation, progressive
Progressive mental retardation[ more ]
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
|Polycystic kidney dysplasia||0000113|
|Postaxial foot polydactyly||0001830|
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
|Renal corticomedullary cysts||0000108|
|Stage 5 chronic
Large mouth[ more ]
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.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Gordon Research Conference (GRC): Cilia, Mucus and Mucociliary Interactions
Sunday, February 8, 2015 -
Friday, February 13, 2015
Location: Hotel Galvez, Galveston, TX
Description: The aims of the meeting are three fold: (1) To disseminate, discuss and integrate cutting-edge data related to progress in cilia, mucus and mucociliary interactions in a forum of world experts and young scientists. Each area will embrace advances in fundamental cell and molecular biology, development, novel imaging techniques, new animal models, and genetic discovery. Attendees will be able to use this information to improve their own understanding to advance their own work, teaching and to be stimulated for new discoveries in these areas. (2) To provide a forum that will link fundamental scientific knowledge related to cilia, mucus, and mucociliary interactions to human disease and avenues for diagnosis and therapies. Thereby, drive new collaborations, technologies and interactions among basic, translational, and clinical researchers related to gene function in diseases of cilia, mucins, mucosal immunity, disease diagnosis and treatment. (3) To promote involvement and advancement of trainees, women and under-represented groups in the study of cilia, mucus and mucociliary interactions. To assure a strong and equitable representation of women, minorities, young investigators (junior faculty, pre-doctoral, post-doctoral trainees) and those with disabilities through sound proactive planning and organization, we will invite and feature young investigators and trainees. The meeting format is designed to enhance the interaction of trainees and senior investigators.
Contact: Robert A. Smith, Ph.D.,(301) 435-0202, email@example.com
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
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