In some cases, symptoms of XLH do not begin until adulthood. Symptoms that may develop in adults with XLH include joint pain and impaired mobility from enthesopathy (calcification of the tendons, ligaments, and joint capsules), tooth abscesses, and
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 dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Low blood phosphate level
Recurrent joint dislocations[ more ]
Softening of the bones
|30%-79% of people have these symptoms|
Degenerative joint disease
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
Hearing defect[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal shape of pelvic girdle bone
|Bowing of the legs||
Bowed lower limbs[ more ]
|Elevated alkaline phosphatase||
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase[ more ]
|Elevated circulating parathyroid
Bowed calf bone
|Flattening of the talar dome||0008144|
|Hypomineralization of enamel||
Poorly mineralized tooth enamel
Irregular wide portion of a long bone
|Renal phosphate wasting||0000117|
|Renal tubular dysfunction||0000124|
|Shortening of the talar neck||0008117|
|Spinal canal stenosis||
Narrow spinal canal
|Spinal cord compression||0002176|
Bowed shinbone[ more ]
|Trapezoidal distal femoral condyles||0006432|
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.
While starting medical treatment very early in childhood can increase final adult height, it is not yet known whether (or how much) this can prevent later-onset complications, and additional (new) symptoms can develop during adulthood.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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