Achondroplasia

What is Achondroplasia?

Achondroplasia (one of over 200 types of dwarfism) is a birth defect that affects a baby’s bone growth. Birth defects are health conditions that are present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works.

As a baby grows, a body tissue called cartilage normally becomes bone in most parts of the body. But if a baby has achondroplasia, cartilage in places like the arms and legs doesn’t turn into bone the way it should. Achondroplasia is a common cause of dwarfism (also called little people), a condition in which a person is very short (less than 4 feet 10 inches as an adult).

Achondroplasia affects about 1 in 15,000 to 1 in 40,000 babies. Most babies born with achondroplasia live a normal life span, but a few may have severe bone problems that can lead to death.

 

What are some physical characteristics of someone with achondroplasia?

A person with achondroplasia often has:

  • Short height (on average, a male with achondroplasia will grow to be no more than 4′ 4″ tall)
  • Short upper arms and thighs (compared to the forearms and lower legs)
  • Large head and forehead with a flat bridge of the nose
  • Dental problems, including crowded or crooked teeth
  • Broad, flat feet, short toes and short fingers
  • Trident hand, a condition in which you have an extra space between the middle and ring fingers
  • Weak muscle tone. Babies with weak muscle tone may have delays in meeting developmental milestones, like sitting, standing and walking.
  • Bowed legs. This is when legs curve outward between the thighs and ankles. Bowed legs can cause pain and trouble with walking. If the bowing or pain is severe, surgery can fix bowed legs.

 

– sourced from the March of Dimes website

To learn more about Achondroplasia, visit: http://www.marchofdimes.org/baby/achondroplasia.aspx

 

What this means for Maddux

We are still doing a ton of research on dwarfism and how it will affect Maddux with his spina bifida. We know that Maddux has hydrocephalus, which is common in both babies with spina bifida and can also be associated in people with dwarfism. We have yet to come across someone else with BOTH this form of dwarfism and spina bifida (although, I am sure they exist and we would LOVE to connect!).

As we become more knowledgeable about dwarfism, we will figure out how it will pair with his spina bifida. Little people go on to live very fulfilling lives and we know Maddux is no exception!

 

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