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||
Asymmetric limb shortening
Recurrent joint dislocations
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||
|Aplasia/Hypoplasia of the skin||
|Clinodactyly of the 5th finger||0004209|
Flat facial shape
Duplication of bones of the toes
Abnormally small eyeball
|Sensorineural hearing impairment||0000407|
|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
|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
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Speckled calcifications in end part of bone
|Failure to thrive||
|Postnatal growth retardation||
Growth delay as children
|Punctate vertebral calcifications||0008420|
Decreased length of neck
|Sparse and thin eyebrow||
Thin, sparse eyebrows
|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.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.