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 epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of femur morphology||
Abnormality of the thighbone
|Abnormality of the hip bone||
Abnormality of the hips
|Abnormality of the humerus||0003063|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the wrist||
Abnormalities of the wrists
Abnormal absence of menstruation
Outward bowing at knees[ more ]
|Hypoplasia of the ovary||
|Hypoplasia of the uterus||
Underdeveloped uterus[ more ]
|Intermittent painful muscle spasms||0011964|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Nephrogenic diabetes insipidus||0009806|
Decreased body height
Small stature[ more ]
|Sparse or absent eyelashes||0200102|
Tapering fingers[ more ]
|5%-29% of people have these symptoms|
Short fingers or toes
Shortened long bone of hand
Short long bone of foot
|Percent of people who have these symptoms is not available through HPO|
Tiredness[ more ]
|Mildly elevated creatine phosphokinase||0008180|
|Osteolytic defects of the phalanges of the hand||0009771|
Flat foot[ more ]
|Skeletal muscle hypertrophy||
Increased skeletal muscle cells
No previous family history
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.
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.