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 the fingernails||
Prominent eye folds[ more ]
Asymmetric limb shortening
Recurrent joint dislocations[ more ]
Round back[ more ]
Drooping upper eyelid
|Scarring alopecia of scalp||0004552|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Abnormal vertebral morphology||0003468|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of hair texture||0010719|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Aplasia/Hypoplasia of the skin||
Absent/underdeveloped skin[ more ]
|Clinodactyly of the 5th finger||0004209|
Flat facial shape
Duplication of bones of the toes
Abnormally small eyeball
|Sensorineural hearing impairment||0000407|
Clubfoot[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal shape of pelvic girdle bone
|Abnormality of the pinna||
Abnormally shaped ears
Simple ears[ more ]
|Abnormality of the thorax||
Abnormality of the chest
|Bilateral talipes equinovarus||
Club foot on both sides
|Concave nasal ridge||
Boxer's nasal deformity
Boxer's nose deformity
Ski jump nose[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Water retention[ more ]
Speckled calcifications in end part of bone
|Failure to thrive||
Weight faltering[ more ]
Hearing defect[ more ]
|Postnatal growth retardation||
Growth delay as children
|Punctate vertebral calcifications||0008420|
Abnormal curving of the spine
Decreased length of neck
|Sparse and thin eyebrow||
Thin, sparse eyebrows
Thin eyelashes[ more ]
|Stippled calcification in carpal bones||0004241|
Narrowing of windpipe
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.
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.
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.
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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