​Hypophosphatasia

Hypophosphatasia is a genetic disorder which affects bone and teeth development in children. It is a congenital disorder, meaning that it exists at birth and your child may be born with it. It is also a genetic disorder, and can be inherited from an affected parent (Autosomal Dominant) or when both parents are asymptomatic carriers (Autosomal Recessive).

Hypophosphatasia occurs due to problems with mineralization, which is a process by which the bones absorb calcium and phosphorus – important minerals for making bones and teeth strong and hard. Due to interference with mineralization, the bones and teeth are softer and the child is more prone to bone deformities, fractures and tooth loss.

When to seek expert advise

The earlier you start treatment for hypophosphatasia, the better the chances of preventing your child’s symptoms from becoming worse. If you notice any delays in your baby’s milestones, such as walking, or if his/ her growth has not been at par with other children of comparable age and gender, you must consult a Paediatric Endocrinologist working with the Children’s Hospital Service Line at The Aga Khan University Hospital to discuss it further. Having a family history of hypophosphatasia also makes your child more likely to have this disorder, and, therefore, you should seek immediate medical attention if your child has any of the above symptoms and is genetically predisposed to developing this disorder.

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