Living with Hereditary hypophosphatemic rickets
An inherited condition in which low blood phosphate makes bones painfully soft and bend easily.
Understanding Hereditary hypophosphatemic rickets
It was previously called vitamin D-resistant rickets. Symptoms usually start in early childhood and range in severity. Severe forms may cause bowed legs, bone and joint pain, poor bone growth, and short stature. In some babies, skull bones close too soon (craniosynostosis).
Signs & symptoms
GARD doesn't list a symptom list for this condition, but the summary describes these signs:
- Soft, easily bent bones
- Bowed legs
- Bone and joint pain
- Poor bone growth
- Short stature
- Skull bones closing too early in some babies
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 GACI Global 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
It may be caused by changes in several genes. Most commonly the PHEX gene is involved, and it is inherited in an X-linked dominant way. Other forms are X-linked recessive, autosomal dominant, or autosomal recessive.
Patient organizations
- GACI GlobalHereditary hypophosphatemic rickets · United States
- XLH NetworkHereditary hypophosphatemic 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 Hereditary hypophosphatemic rickets.
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