What is achondroplasia

Prominent forehead frontal bossing Shortened arms and legs especially the upper arm and thigh Short stature significantly below the average height for a person of the same age and sex Narrowing of the spinal column spinal stenosis Spine curvatures called kyphosis and lordosis Exams and Tests During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus "water on the brain". X-rays of the long bones can reveal achondroplasia in the newborn.

What is achondroplasia

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. Achondroplasia is a common cause of dwarfism also called little peoplea condition in which a person is very short less than 4 feet 10 inches as an adult.

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

A gene change also called a mutation causes achondroplasia. Genes are passed from parents to children. A gene change is a change to the instructions in a gene. These changes can cause birth defects and other health conditions. If you or your partner has achondroplasia, you can pass it to your baby.

If both you and your partner have achondroplasia, there is: To find a genetic counselor, ask your provider or contact the National Society of Genetic Counselors. How do you know if your baby has achondroplasia?


Before birth, your provider may think your baby has achondroplasia if an ultrasound shows your baby has bone problems, like shortened bones.

An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. If the ultrasound shows these bone problems, your provider may recommend a prenatal test called amniocentesis also called amnio to confirm that your baby has achrondroplasia.

In an amnio, your provider takes some amniotic fluid from around your baby in the uterus. The test checks for birth defects and genetic conditions in your baby. What are some physical characteristics of someone with achondroplasia?

A person with achondroplasia often has: Short height 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 milestoneslike sitting, standing and walking. 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.

What is achondroplasia

What health problems can achondroplasia cause and how are they treated? People with achondroplasia often have these health problems: This is when a baby stops breathing for 15 to 20 seconds or more.

Babies with apnea and other breathing problems may need surgery to remove the tonsils and adenoids lymph tissue near the throat. Some babies with achondroplasia need ear tubes. These are small tubes placed in the ear that let air into the middle ear and help lower chances of ear infections.

Without treatment, repeat ear infections can cause hearing loss. Obesity being very overweight. Healthy eating and being active can help your child stay at a healthy weight as she grows. Compression of the upper end of the spinal cord. This is when the opening where the head and spine backbone connect is too small.

The spinal cord gets squeezed compressedcausing trouble with breathing. A small number of babies with achondroplasia die suddenly often during sleep from compression.

Achondroplasia | March of Dimes

If needed, surgery can widen the opening to ease pressure on the spinal cord.Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15, to one in 40, live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene.

The FGFR3 gene makes a protein called fibroblast. Achondroplasia is a bone disorder affecting about one in every 10, infants. It is caused by a mutation in the FGFR3 gene that impairs the growth of bone in the .

Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,, live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene. 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 . Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature. 61 rows · Dec 20,  · Achondroplasia is a disorder of bone growth that prevents the changing of .

Achondroplasia - Wikipedia