Achondroplasia

Achondroplasia is a disorder concerning bone growth. The most common term for this is dwarfism. It is considered an autosomal dominant trait. If the child has a parent with achondroplasia, they have a 50% chance to get it. If both of the child's parents have the condition, they have a 75% chance to get it. A child can also get it from a spontaneous mutation. There is a 1 in 15,000 to 40,000 chance of achondroplasia in newborns. The mutation is present in the FGFR3 gene, which, provides instructions to make proteins involved in the maintenance of bone and brain tissue.

Symptoms of achondroplasia include: spinal kyphosis/lordosis, spinal stenosis, short stature, short arms and legs, prominent forehead, large ratio of head-to-body, decrease in muscle tone, and bowed legs.

Tests to examine achondroplasia are a prenatal ultrasound during pregnancy. An excessive amount of amniotic fluid will be surrounding the fetus. X-rays of long bones in newborns will also reveal this disorder.

Some complications of achondroplasia are clubbed feet and hydrocephalus.

There really isn't any treatment for achondroplasia except if the spinal stenosis, kyphosis, or lordosis becomes a problem.