Which is a common clinical feature of Hypophosphatasia?

Hypophosphatasia is a rare genetic disorder characterized by abnormal mineralization of bones due to deficient activity of the enzyme tissue-nonspecific alkaline phosphatase. One of the hallmark clinical features of this condition is premature tooth loss. Individuals with hypophosphatasia often experience dental issues, including early loss of primary teeth due to weakened dental structures resulting from poor mineralization.

The connection between hypophosphatasia and dental health stems from the role that alkaline phosphatase plays in the development and maintenance of bones and teeth. The absence of adequate enzyme activity leads to changes in the structure of teeth, causing them to become unstable and lost prematurely. This feature is significant in diagnosing the condition and in understanding the systemic impact of enzyme deficiency.

Other clinical features associated with hypophosphatasia may include skeletal anomalies, but these are distinct from dental issues, which specifically highlight the premature loss of teeth in affected individuals.