Achondroplasia is a rare disorder that causes short stature and a large head. It also affects the arms and legs. It is the most prevalent type of skeletal Dysplasia. a term used to describe hundreds of conditions. Affects about 1 in 15 to 35 births.
Achondroplasia is unknown, there are no cures, and treatment options are limited. However, the life expectancy of an affected individual is not impacted unless they experience severe complications. We will discuss the condition and how it’s diagnosed, treated, and developed. We will also look at clinical trials that can help researchers better understand it.
Overview of achondroplasia
Achondroplasia is a genetic disorder that starts during the fetal stage of development when cartilage tissue normally turns into bone. Achondroplasia is a genetic condition that begins during fetal development, at the stage where cartilage tissue typically turns into bone.
Achondroplasia is characterized by shorter arms and legs than normal (especially the upper arms and thighs), a limited range of motion at the elbow, and an enlarged skull. Without treatment, an adult male’s average height is 4’4″ while an adult woman’s average height is 4’1″.
Achondroplasia treatment options
There is no cure for achondroplasia. However, treatment options have increased in recent years. In the year 2021, a medication that promotes growth in children aged five and older was approved.
Managing this condition and the associated health problems is recommended. Obesity, recurrent infections of the ears, and narrowing of the spinal canal are common symptoms for those diagnosed. Achondroplasia is not curable, but people with ACH can live a healthy and full life if they work with their doctors to manage any secondary complications.
How is achondroplasia detected?
Achondroplasia is usually diagnosed during an ultrasound before birth but can be detected after birth through a physical exam. Parents who are at a higher risk of having an achondroplasia-affected child can confirm the ultrasound findings with DNA testing.
How is achondroplasia passed on?
Achondroplasia is a condition that can be passed on to a child by either parent, but a genetic mutation is more likely to cause it. This means it can affect anyone. Achondroplasia is a genetic condition that can be passed on to a child by parents. However, 80% of cases are caused when neither parent carries the gene.
Resources for achondroplasia
Many resources are available to those living with achondroplasia and their caregivers. Below are a few patient advocacy groups that provide educational resources, support groups, and much more. There are several groups to note, including:
Child Growth Foundation
Human Growth Foundation
Little People of America
Researchers still do not fully understand achondroplasia despite the progress made in diagnosing and treating it. Clinical trials are being conducted to better diagnose and treat people with achondroplasia. Click the button to learn more about clinical studies.
