What body parts does achondroplasia affect?
What body parts does achondroplasia affect?
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence.
What is the possibility of achondroplasia being passed down?
Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder.
How does achondroplasia affect everyday life?
Affected patients experience various orthopedic and neurological complications and might face multiple medical and non-medical challenges in their daily life [5,6,7,8]. Adult patients reported physical and mental impairments as well as lower quality of life and lower self-esteem than healthy relatives [9, 10].
What are the symptoms of achondroplasia in children?
Children and adults with achondroplasia may: have difficulty bending their elbows. be obese. experience recurrent ear infections due to narrow passages in the ears. develop bowed legs. develop an abnormal curvature of the spine called kyphosis or lordosis. develop new or more severe spinal stenosis.
What kind of bone growth disorder is achondroplasia?
Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult.
Is there a cure or treatment for achondroplasia?
Although the cause of achondroplasia is known, there is currently no known treatment for the underlying condition itself. Human growth hormone has been used to treat other types of dwarfism but has not proven beneficial for patients with achondroplasia.
How are CT scans used to diagnose achondroplasia?
In providing care for children with achondroplasia, doctors will periodically take X-rays to monitor the position of the spine and lower extremities. MRI scans of the brain and spine help doctors spot development of spinal stenosis, and CT scans are occasionally ordered to visualize the vertebrae in the spine.
What is the life span of someone with achondroplasia?
Life span for heterozygous achondroplasia is usually normal unless there are serious complications. A mean life expectancy is approximately 10 years less than the general population (Hecht et al, 1987). Homozygous achondroplasia is a lethal condition with severe respiratory distress caused by rib-cage deformity.
Is there a mild form of achondroplasia?
Although achondroplasia is a metaphyseal dysplasia, generalized metaphyseal changes are mild and nonspecific.
What type of mutation causes achondroplasia?
Achondroplasia is caused by a mutation in fibroblast growth factor receptor 3 (FGFR3) gene. This gene is mainly responsible for making the protein, fibroblast growth factor receptor 3.
How many people have achondroplasia?
Achondroplasia, popularly known as dwarfism, is a condition that affects 1 in 20,000 people. Sufferers have an average size head while the body is smaller than usual, with less than 1.30 in women and 1.40 in men.