Rare & Genetic Bone Disorders
Answers to common questions about rare & genetic bone disorders.
Questions on this page
What is hypophosphatemic rickets?
It is a group of disorders characterized by abnormal phosphate handling, leading to impaired bone mineralization.
What is X-linked hypophosphatemia?
X-linked hypophosphatemia is an inherited disorder involving excessive renal phosphate loss and impaired bone mineralization.
What is hypophosphatasia?
Hypophosphatasia is a rare inherited disorder caused by reduced activity of tissue-nonspecific alkaline phosphatase and can affect bones and teeth.
What is osteogenesis imperfecta?
Osteogenesis imperfecta is a group of inherited disorders characterized mainly by increased bone fragility.
When should a rare bone disorder be suspected?
Consider evaluation when there are:
- Recurrent fractures
- Unexplained bone pain
- Persistent low phosphate
- Abnormal alkaline phosphatase
- Short stature with skeletal abnormalities
- Early tooth loss
- Family history of unusual bone disease