- A family of children diagnosed with the rarest of diseases — Infantile Hypophosphatasia
struggling to get these genetic disorders included under the Centre’s National Policy for
Rare Diseases (NPRD). - Infantile Hypophosphatasia is a rare genetic disease in which the patient’s bones and
teeth demineralise, making her fragile and prone to fractures. - It may have no noticeable abnormalities at birth, but complications become apparent
within the first six months of life. - The initial problem may be the baby’s failure to gain weight and grow as expected,
referred to as “failure to thrive.” - Sometimes the skull bones fuse, called craniosynostosis, which can lead to a deformed
head (brachycephaly). - Affected infants have softened, weakened, and deformed bones consistent with rickets.
- Rickets is a general term for complications due to defective skeletal mineralization during
growth with softening of bone and characteristic bowing deformities. - It is caused by mutations in the ALPL gene.
- This is the only gene that causes HPP. Genes provide instructions for making proteins
that have an important function in the body. - When a mutation occurs, the protein may be faulty, inefficient, or absent, as in HPP.
