​Achondroplasia

Achondroplasia is a disorder which affects bone growth and causes disproportionate dwarfism. People with achondroplasia have short height, short limbs and a normal sized torso.

In the uterus, the foetal skeleton is developed from cartilage, which converts to bone as the foetus develops. In achondroplasia, most of the cartilage fails to convert into bone causing dwarfism. This is due to a genetic mutation. 

Most cases of achondroplasia are random, meaning that at times parents without achondroplasia may give birth to a baby with this disorder.

You may be able to easily recognize achondroplasia owing to its symptoms. Symptoms at birth include:

  • Short stature (significantly below the average height of a new-born of the same gender)

  • Abnormal appearance of the hand, with short fingers and prominent space between the long finger and the ring finger

  • Short arms and legs, especially the parts above the elbows and knees

  • Disproportionate, large head as compared to body size

  • Abnormally large forehead

Symptoms in children and adults include:

  • Bowed legs

  • Curvature of spine known as kyphosis and lordosis

  • Spinal stenosis (narrowing of the spaces in the spine)

  • Decreased muscle tone ​


If you notice symptoms in your child that may hint towards achondroplasia, or you are expecting a baby, you can seek the medical advice of the highly trained medical faculty working with the Children's Hospital Service Line at The Aga Khan University Hospital. ​


​

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


​

Your diagnosis will depend on the tests that will be performed on you during pregnancy. The tests may also be carried out after your child is born and exhibits signs of achondroplasia.

To conduct a diagnosis during pregnancy, you may be asked to undergo an ultrasound test to look for hydrocephalus or an abnormally large head. Your doctor may notice this abnormality in routine prenatal ultrasound as well. If archondroplasia is suspected, you may have to undergo a genetic testing to determine the existence of genetic mutation in the sample of amniotic fluid.

For diagnosis after birth, your doctor may be able to identify achondroplasia by looking at the child’s features. For confirmation, your child may have to undergo some tests including:

  • X-ray to measure the length of the bones.

  • Blood tests to determine the presence of the defective gene. ​


The abnormalities due to achondroplasia are only physical. Mentally your child is as fit and intelligent as the next child. Unfortunately there are no treatments available for achondroplasia. Symptoms caused by this disorder such as spinal stenosis and spinal cord compression, can be treated when/if they cause a problem. ​

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.