What is X-linked hypophosphatemia (XLH)? X-linked hypophosphatemia (pronounced “high-po-faas-fuh-TEE-mee-uh”), or XLH, is a genetic disease that causes issues with your bones and teeth. It’s a form of rickets. Children with XLH often have difficulty walking and can have bowed legs. It can also cause muscle weakness, hearing loss and other issues.
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX ...
The XLH Network supports families and individuals living with X-Linked Hypophosphatemia (XLH). Our mission includes promoting awareness and education, providing opportunities for connection and community, and to foster the search for a cure.
X-linked hypophosphatemia (XLH) is a rare inherited disorder that affects the bones and teeth. What is X-linked hypophosphatemia?X-linked hypophosphatemia (XLH) is a rare inherited disorder that affects the bones and teeth. It is characterized by low levels of the mineral phosphorus (sometimes referred to as “phosphate”) in the blood due to abnormal processing by the kidneys. When ...
XLHlink is a patient resource dedicated to providing the x-linked hypophosphatemia (XLH) community with education, empowerment, and connection.
The Yale Center for X-Linked Hypophosphatemia and Related Conditions (YC-XLH) was established in 2006 as an NIH/NIAMSD-sponsored Center of Research Translation to support research, clinical trials, and clinical care in the field of endocrinology. As a dynamic research site, we are constantly investigating new and more effective treatments for a host of rare diseases including, but not limited ...