​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.


The symptoms of hypophosphatasia vary from child to child, and may even be exhibited at varying levels of severity in two individuals within the same family. Extreme forms of this disorder may result in still birth.

It is important to note that not everyone may exhibit all the symptoms and some children may have severe complications, while others may only show mild signs of this disorder. Children with hypophosphatasia may have the following signs and symptoms:

  • Short, bowed arms and legs

  • Underdeveloped ribs

  • Deformities of the chest

  • Stillbirth in extreme cases

  • Slow rate of growth in weight and height

  • Head appearing disproportionately wide

  • Enlarged wrists and ankle joints

  • Frequent fractures, such as rib fractures

  • Breathing and respiratory difficulties due to deformities of the chest

  • Tenderness or pain in bones

  • Constipation, weakness and poor feeding due to elevated levels of unabsorbed calcium in the blood

  • Loss of teeth at an earlier-than-expected age

  • Delays in walking or walking in a ‘waddling’ manner

You may not notice the symptoms at first, but the symptoms become more obvious in the first six months.

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.

Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.

A detailed medical history, including information about other blood relatives who may have this disorder, will help your child’s paediatrician make an initial diagnosis of hypophosphatasia. The paediatrician will particularly ask for characteristic signs and symptoms from you, especially regarding growth, movement and bone and joint-related observations that you may have made. A physical examination will also help the paediatrician identify specific signs and symptoms.

Because the symptoms often overlap with other diseases, detailed tests have to be conducted to conclusively diagnose hypophosphatasia.  Some of these include:

  • Blood tests to check the level of calcium, phosphate and alkaline phosphatase in the blood

  • X-ray studies to show characteristic changes within the bones

At the Children’s Hospital Service Line at The Aga Khan University Hospital the only internationally accredited hospital of Pakistan, paediatricians are internationally trained in the unique diagnosis and treatment of genetic disorders in children, such as hypophosphatasia. You must make sure that you discuss your child’s symptoms, as well as any family history of this disease, or an observed bone deformity in your child in complete detail with the paediatrician to help reach an accurate diagnosis and start off a personalized treatment plan.

Treatments for hypophosphatasia are directed towards managing the symptoms and reducing chances of complications. Some of the treatment options include:

  • Administration of prescribed drugs to manage bone and joint pain

  • Restricting calcium in the child’s diet to prevent high levels of calcium in the blood

  • Routine dental check-ups

  • Physical and occupational therapy

  • Use of special devices in case of frequent fractures

Coordinated efforts from the team of specialists at The Aga Khan University Hospital including paediatricians, physiotherapists, orthopaedic surgeons, paediatric dentists, and other healthcare professionals, as well as the parents is important to help the child remain active and healthy and maintain his/ her quality of life.

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.
 
The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.
 
The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.



The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.