Short answer · Medically reviewed summary · Last updated: 2023-07-13
X-linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth. It is caused by a mutation in the PHEX gene, which is located on the X chromosome.
1 people with X-linked Hypophosphatemia (XLH) have shared their first-person experience on this question at DiseaseMaps.
X-linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth. It is caused by a mutation in the PHEX gene, which is located on the X chromosome. XLH is inherited in an X-linked dominant pattern, meaning that the gene mutation is located on the X chromosome and can be passed down from either parent.
It is important to note that XLH is not contagious. It is a genetic condition and cannot be transmitted from person to person through any means of contact. The mutation in the PHEX gene is present from birth and affects the body's ability to properly regulate phosphate levels, leading to various symptoms such as bowed legs, short stature, dental problems, and bone pain.
XLH is a rare condition, and individuals with XLH may have a 50% chance of passing the gene mutation to their children. It is crucial for individuals with XLH to receive appropriate medical care and management from healthcare professionals who specialize in this condition. Treatment options may include phosphate and vitamin D supplements, as well as other interventions to manage symptoms and improve quality of life.