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.
