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|
|Abnormal enchondral ossification||0003336|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Aplasia/Hypoplasia of the lungs||
Absent/underdeveloped lungs[ more ]
Flat facial shape
|Lethal skeletal dysplasia||
Lethal dwarfism identifiable at birth
Increased size of skull
Large head circumference[ more ]
Little lower jaw
Small lower jaw[ more ]
Low chest circumference
Narrow shoulders[ more ]
|Severe short stature||
Short stature, severe[ more ]
Small feet[ more ]
Decreased length of neck
Decreased length of nose
Shortened nose[ more ]
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the ribs||
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|
Bloating[ more ]
|Absent or minimally ossified vertebral bodies||0004599|
Water retention[ more ]
|Neonatal short-limb short stature||
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth[ 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.
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
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