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 calcium-phosphate metabolism||0100530|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Stiff joints[ more ]
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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. Submit a new question
How long is the average life expectancy for a person who has Vitamin D-resistant rickets? See answer
If vitamin D is increased will calcium levels raise higher than they usually are? Because I have x-linked vitamin D resistant rickets, can any of my boys who inherited this disease, pass it on to their children? I was told "no" by one doctor and "yes" by another. Thank you for checking on this for us. See answer
I was born with hypophosphatemic rickets. As a child I was given buffered sodium phosphate, which helped to stop my calcium levels becoming too high. This has been stopped for some time now. I am now an adult and am taking Calcitrol, but my calcium levels are still high. How are high calcium levels in adults with hypophosphatemic rickets treated? See answer
My nephew was diagnosed with hypophosphatemic rickets. He is on calcitriol but is not responding. What causes this, and is there any treatment? See answer
I was diagnosed with hypophosphatemic rickets 24 years ago. My brother is not affected. Are my future children at risk to have this condition? See answer
My son has hypophosphatemic rickets and frequently develops abscesses in his mouth. Our doctor believes this is due to the weakened bones caused by this condition. Can you give me more information on this? See answer