Hypophosphatasia synonyms

Hypophosphatasia, also known as HPP, is a rare genetic disorder that affects the development and maintenance of bones and teeth. It is caused by mutations in the ALPL gene, which leads to a deficiency of an enzyme called alkaline phosphatase (ALP). This enzyme is responsible for the mineralization of bones and teeth, so its deficiency results in abnormal skeletal and dental development.

Synonyms for Hypophosphatasia:

• Alkaline phosphatase deficiency


• Phosphoethanolaminuria


• Rathbun syndrome


• Rathburn disease


• Rathburn syndrome


• Perinatal lethal hypophosphatasia


• Infantile hypophosphatasia


• Childhood hypophosphatasia


• Adult hypophosphatasia


• Odontohypophosphatasia

Hypophosphatasia can present with a wide range of symptoms and severity, depending on the age of onset and the specific ALPL gene mutation. In severe cases, it can lead to skeletal abnormalities, such as short stature, bowed legs, and fractures. Dental problems, including premature tooth loss and poorly formed teeth, are also common. In some cases, hypophosphatasia can affect other organs, such as the lungs and kidneys.

Diagnosis of hypophosphatasia involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Treatment options for hypophosphatasia are limited, and management mainly focuses on supportive care. This may include physical therapy, pain management, and dental interventions. In some cases, enzyme replacement therapy may be considered to supplement the deficient alkaline phosphatase enzyme.

It is important for individuals with hypophosphatasia to receive comprehensive medical care and ongoing monitoring to address the specific needs associated with this condition. Early diagnosis and intervention can help improve outcomes and quality of life for those affected by hypophosphatasia.