Achondroplasia
Achondroplasia, also known as dwarfism, is a condition that causes abnormal bone growth and development. The condition is present at birth, and most people with achondroplasia will not grow to an average adult height.
Achondroplasia affects the skull, spine, and bones in the arms and legs. Soft parts of bone, called cartilage, that would normally develop into hard bone do not change. This causes bones to be short and poorly shaped. Achondroplasia affects boys and girls equally. It does not affect a child’s intelligence.
CAUSES
Achondroplasia is caused by an abnormal gene, called a gene mutation. The gene mutation that causes achondroplasia is usually a spontaneous gene mutation, meaning that it happened by chance. There is very little risk that any additional children you have would also have the condition. However, …show more content…
This involves inserting a needle into the womb to collect a sample of amniotic fluid for testing. This procedure is known as amniocentesis.
After birth, achondroplasia may be suspected based on a physical examination. Other tests done may include:
A blood test to check for the gene mutation.
X-rays of the skull, spine, and limbs to look for bone changes.
Imaging studies, such as CT scan or MRI, to look for abnormalities of the spine or spinal cord.
TREATMENT
There is no cure for achondroplasia. Treatments may include:
Taking human growth hormone (HGH). Children 1–6 years of age may take this medicine to increase height. Most of the effects of HGH take place in the first year of treatment.
Surgery to treat complications, including:
Having surgery or physical therapy to treat spinal problems.
Having a surgical drain inserted between the brain and the abdomen to treat hydrocephalus.
Treating other problems that may occur because of achondroplasia.
HOME CARE
Achondroplasia, also known as dwarfism, is a condition that causes abnormal bone growth and development. The condition is present at birth, and most people with achondroplasia will not grow to an average adult height.
Achondroplasia affects the skull, spine, and bones in the arms and legs. Soft parts of bone, called cartilage, that would normally develop into hard bone do not change. This causes bones to be short and poorly shaped. Achondroplasia affects boys and girls equally. It does not affect a child’s intelligence.
CAUSES
Achondroplasia is caused by an abnormal gene, called a gene mutation. The gene mutation that causes achondroplasia is usually a spontaneous gene mutation, meaning that it happened by chance. There is very little risk that any additional children you have would also have the condition. However, …show more content…
This involves inserting a needle into the womb to collect a sample of amniotic fluid for testing. This procedure is known as amniocentesis.
After birth, achondroplasia may be suspected based on a physical examination. Other tests done may include:
A blood test to check for the gene mutation.
X-rays of the skull, spine, and limbs to look for bone changes.
Imaging studies, such as CT scan or MRI, to look for abnormalities of the spine or spinal cord.
TREATMENT
There is no cure for achondroplasia. Treatments may include:
Taking human growth hormone (HGH). Children 1–6 years of age may take this medicine to increase height. Most of the effects of HGH take place in the first year of treatment.
Surgery to treat complications, including:
Having surgery or physical therapy to treat spinal problems.
Having a surgical drain inserted between the brain and the abdomen to treat hydrocephalus.
Treating other problems that may occur because of achondroplasia.
HOME CARE