Achondroplasia

Patient Education

What Is Achondroplasia?

Its is a genetic bone defect that hinders limb bone growth and leads to abnormal growth of the skull and spine. This leads to shorter bones, irregularly shaped bones, and shorter stature.

Achondroplasia can be passed down to a child if either parent has it. However, most children with it are born with a new (or spontaneous) genetic mutation that has already occurred before birth, and neither parent has the condition.

A genetic counselor can provide assistance to families in understanding how achondroplasia can be passed down through families.

What are the Symptoms of Achondroplasia?

Children diagnosed with achondroplasia have-

1. Most striking feature is dwarfism (height less than 4 feet as an adult) - children have a normal-sized face and torso, but the limbs are smaller
2. A large head
3. An outward curve above the brows on the forehead (called frontal bossing)
4. Flattening of the nasal bridge between the eyes (called midface hypoplasia)
5. Misaligned or crowded teeth
6. Knees curved out or knees curved in
7. An extra space between the middle and ring fingers (also called a trident hand)
8. Small vertebral canals that could cause spinal cord compression in teenagers
9. Curved spine
10. Having weak muscles and loose joints

What are the health problems that can occur due to Achondroplasia?

1. Repeated ear infections and discharge that can lead to ear discharge
2. Delayed developmental milestones specially motor
3. Obesity
4. Neurological problems

   • Brisk reflexes
   • Numbness/ Weakness
   • Irritability
   • Inadequate nutrition
   • Walking is difficult.
   • Bladder and bowel control problems
   • Obstructive sleep apnea (periods during sleep when the child stops breathing)
   • Quickly enlarging head circumference due to hydrocephalus
   • Children may experience pain, numbness, or weakness in a specific arm or leg if only one nerve root is compressed. They may appear to prefer using one hand over the other as babies, or they may complain of pain in their back or affected arm.

How is Achondroplasia diagnosed?

An ultrasound is done prenatally, genetic testing (via amniocentesis), and/or chorionic villus sampling may be used to diagnose achondroplasia before birth (CVS).

If a child is shorter than other children his or her age or has short arms and legs, doctors conduct an examination and tests to determine the cause. These examinations typically include X-rays and, in some cases, genetic testing.

Modern medical interventions and prompt diagnosis can increase an achondroplasia child's chance of living a full and happy life.

How Is Achondroplasia Treated?

There is no one specific drug or treatment that can cure achondroplasia. Since achondroplasia can present with bone abnormalities as well as other complications, a cumulative approach to treatment is preferred by the doctors

Initially, Infants are closely monitored for the first two years of life, then followed every one to two years to assess for complications.

Doctors will take X-rays on a regular basis to monitor the position of the spine and lower extremities. MRI scans of the brain and spine can help doctors detect the development of spinal stenosis, and CT scans of the spine are occasionally ordered to visualize the vertebrae.

Children with achondroplasia are cared for by a team of specialists. They typically consist of the following:

1. A geneticist can advise families on future medical care and assist families in understanding the genetic changes.
2. An orthopedic surgeon: for issues with the bones. They can recommend surgery or conservative measures like using back support.
3. An otolaryngologist (ENT physician) for assistance with ear fluid and/or infections. The specialist can recommend ear tubes that help drain the discharging fluid.
4. A pulmonologist can help treat sleep apnea
5. A neurosurgeon: for issues with the brain and spinal cord like in case of spinal stenosis or hydrocephalus
6. A paediatrician: for standard medical care and who will also help in weight management
7. An occupational therapist for assistance with eating, writing, and other daily tasks. They can also recommend some changes in everyday living like stools where necessary, lower chairs with footrests, and extenders for light switches

When should parents seek for help?

If the child experiences the following -

• Sudden numbness or tingling in the limbs
• Is unable to hear, or screams loudly so that he can get heard
• A sudden appearing swelling in the forehead
• Loses motor skills
• Falls short of breath while sleeping

Call someone or consult the Pediatrician if any of the symptoms occur.

Regular medical care will help these children stay healthy and enable doctors to address any health issues as soon as they arise. Support groups for children and their families can be beneficial.