Achondroplasia is a type of dwarfism within which the limbs are shorter.

In this article, Dr. Ratnav Ratan, One of Delhi’s leading pediatric orthopedic surgeons, explains what achondroplasia is, the signs and symptoms it causes in babies, and how quickly doctors can detect it in a child.

A large head related toward the body, a raised forehead, and increased area between the middle and ring fingers are possible signs in babies.

Achondroplasia is the most common cause of short stature, affecting one out of every 10,000–30,000 children.

Because of how achondroplasia is passed down through the genes, about 75–80 percent of people with the condition are born to average height parents.

What is achondroplasia?

According to Dr.Ratnav Ratan, an excellent pediatric orthopedic specialist, achondroplasia is a genetic disorder that affects bone growth. The term “achondroplasia” literally means “lack of cartilage formation.”

Cartilage is a tough, flexible tissue that makes up most of the skeleton during development.

The body can form cartilage in people with achondroplasia, but it has difficulty converting it to the bone.

This causes growth differences, particularly in the limbs.

The condition causes everyone to be short in stature.

Adults with achondroplasia are typically 4 feet 1 inch (124 centimeters) tall for females and 4 feet 4 inches (131 centimeters) tall for males.

Achondroplasia is not a disease that can be treated or cured. Many people with the disease live happy, healthy lives.

What causes achondroplasia?

Mutations in the FGFR3 gene cause achondroplasia; this gene directs the production of a protein that aids in the development and maintenance of bone and brain tissue.

Almost all cases of achondroplasia are caused by two specific changes in the FGFR3 gene.

Dr.Ratnav Ratan, Delhi’s best pediatric orthopedic surgeon, believes that these differences in the gene cause the FGFR3 protein to become overactive, affecting skeletal development and leading to achondroplasia-related changes in bone growth.

Achondroplasia can be passed down through the generations as an autosomal dominant trait. If a child inherits the disease-causing gene from one parent, the child will be born with it.

If one of the parents has achondroplasia, the baby has a 50% chance of inheriting it.

A child has a 50% chance of inheriting achondroplasia if both parents have it.

However, they have a 25% chance of inheriting a gene mutation that leads to homozygous achondroplasia, which is a fatal form of the disease.

In most cases, a specific gene that has changed spontaneously is passed down from two parents who do not have achondroplasia.

Symptoms and signs

Achondroplasia is characterized by short arms and legs, short upper arms and thighs, and an average trunk.

Dr. Ratnav Ratan says, “in a young baby, however, these signs may be more challenging to detect.”

Other signs and symptoms to look out for include:

  • ahead that is disproportionally large compared to the body
  • the increased area between the middle and ring fingers
  • a prominent forehead
  • shorter fingers
  • limited range of motion at the elbows
  • bowed legs
  • decreased muscle tone
  • a curved spine

Is it possible to tell if a baby has achondroplasia right away?

If a doctor notices shortened bones on an ultrasound scan during pregnancy, they may diagnose achondroplasia.

They can use ultrasound to see if there is too much amniotic fluid around the baby, indicating achondroplasia.

Achondroplasia can also be diagnosed shortly after birth by a doctor. 

  • They may look for things like increased front-to-back head size, 
  • signs of hydrocephalus (excess fluid on the brain),
  • shortened long bones in the arms and legs, especially on X-rays

Doctors can use genetic testing to confirm a diagnosis, but it is not always necessary.

Is achondroplasia harmful to one’s health?

Certain health conditions can be exacerbated by achondroplasia. 

According to Dr. Ratnav Ratan, the pediatric orthopedic surgeon from Delhi, Doctors can treat, manage, or reduce the impact of complications with the proper medical care and support.

A person with achondroplasia may be more susceptible to the following conditions:

Ear infections that recur:

A person with small ear passages is more likely to get ear infections frequently.

Curved spine:

Achondroplasia can cause a curved spine in some people. This does not always result in health issues, but it can alter a person’s posture. It may cause pain or put pressure on internal organs on rare occasions.

Apnea

Apnea is a condition in which breathing stops for a short period before restarting. It can lead to other symptoms and increase the risk of developing other illnesses over time.

Spinal stenosis:

Spinal stenosis is a potentially dangerous complication in which the spinal column narrows and puts pressure on the spinal cord. Numbness, tingling, pain, and difficulty walking are all symptoms of spinal stenosis.

Hydrocephalus:

Hydrocephalus is a less common but potentially life-threatening complication. Hydrocephalus is a condition in which fluid accumulates on the brain, causing an increase in head size and possibly affecting the brain itself.

Assisting children with achondroplasia

Children with achondroplasia frequently grow up to be healthy, self-sufficient adults. Others’ perceptions of the condition, on the other hand, can be harmful. It’s a result of ableism.

As their children grow older, parents and caregivers must become advocates for their children’s health and happiness.

This could entail:

Boosting self-confidence and independence

Self-esteem and self-assurance are crucial aspects of a child’s development.

Caregivers can help a child with achondroplasia develop self-esteem by:

  • Treating them according to their age and level of action rather than their size
  • Asking the child how they would like to refer to themselves is not a problem when treating achondroplasia as a difference (e.g., a person of short stature, little person, or similar)
  • allowing the child to do things for themselves rather than having someone else do it for them
  • adapting family activities so they can participate in
  • asking family and friends to adopt these approaches as well

Maintaining the health of your spine

Children with achondroplasia may develop spine curvatures such as kyphosis or lordosis as they grow. 

Parents and caregivers can reduce the chance of this by:

  • avoiding unsupported sitting devices that cause curved sitting during the first year of life
  • positioning the baby with a straight back and head when feeding, with support from a firm pillow or feeding seat
  • seeking pediatric orthopedic care if the spine begins to curve

Promoting nutrition and exercise

Balanced nutrition and exercise can benefit anyone’s bones and joints, but it’s essential for those with achondroplasia. It can also help to prevent obesity, sleep apnea, and other health problems.

When should you consult a doctor?

Anyone who suspects their child has achondroplasia should seek a diagnosis from a pediatrician.

Knowing that a child has the condition can help parents and caregivers adjust their parenting style and prepare for future challenges. 

It also means that doctors will be aware of any possible complications.

It’s also crucial for children with achondroplasia to attend routine appointments to track their growth and development.

Summary

The most common cause of dwarfism is achondroplasia. Achondroplasia is caused by mutations in the FGFR3 gene, which controls how the body makes bone. 

Even if a person does not have achondroplasia, they can pass on the gene.

Achondroplasia symptoms in a baby can include:

  • Shorter legs
  • A head that is larger than usual
  • Between the middle and ring fingers is a space

A physical examination and medical imaging can help a doctor make a diagnosis.

They may conduct tests to detect the genetic change in some cases.

Although achondroplasia does not require treatment, some people may require assistance to live whole and healthy lives. 

Because each child is unique, it’s critical to tailor this support to their wants and needs while encouraging independence.

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