The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of calcium-phosphate metabolism||90%|
|Abnormality of dental enamel||90%|
|Bowing of the long bones||90%|
|Delayed eruption of teeth||90%|
|Limitation of joint mobility||90%|
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
GARD Information Navigator
May 10, 2016
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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