Living with Familial X-linked hypophosphatemic vitamin D refractory rickets
An inherited condition (XLH) with low blood phosphate that leads to soft, weak bones, bowed legs and dental pain.
Understanding Familial X-linked hypophosphatemic vitamin D refractory rickets
The kidneys lose phosphate in urine, which leads to soft, weak bones (rickets). It is usually diagnosed in childhood. Features include bowed legs, short height, bone pain, and severe dental pain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bowed legs or knock knees
- Bone pain
- Short stature and slow growth
- Delayed standing and walking
- Joint pain
- Dental problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in PHEX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
XLH Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: XLH Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with XLH Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PHEX gene on the X chromosome cause it. It is X-linked dominant.
Also known as: hereditary hypophosphatemic rickets, x-linked; hypophosphatemia, vitamin d-resistant rickets; hypophosphatemic rickets x-linked dominant; hypophosphatemic rickets, x-linked; hypophosphatemic rickets, x-linked dominant; hypophosphatemic rickets, x-linked dominant, x-linked dominant
Patient organizations
- XLH NetworkFamilial X-linked hypophosphatemic vitamin D refractory rickets · United States
- International XLH AllianceFamilial X-linked hypophosphatemic vitamin D refractory rickets · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial X-linked hypophosphatemic vitamin D refractory rickets.
Explore research for Familial X-linked hypophosphatemic vitamin D refractory rickets
Explore actively recruiting Familial X-linked hypophosphatemic vitamin D refractory rickets studies with HealthSpark.
Find actively recruiting studies for Familial X-linked hypophosphatemic vitamin D refractory rickets with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial X-linked hypophosphatemic vitamin D refractory rickets studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial X-linked hypophosphatemic vitamin D refractory rickets
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial X-linked hypophosphatemic vitamin D refractory rickets experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.