What is achondroplasia characterized by?
This genetic disorder is characterized by an unusually large head (macrocephaly), short upper arms (rhizomelic dwarfism), and short stature (adult height of approximately 4 feet). Achondroplasia does not typically cause impairment or deficiencies in mental abilities.
How does achondroplasia affect the body?
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 causes achondroplasia?
Causes. Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia.
What is the prognosis of achondrogenesis?
Outlook (Prognosis) The outcome is most often very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.
When is achondroplasia usually diagnosed?
Achondroplasia can be diagnosed before birth by fetal ultrasound. This test uses sound waves and a computer to create images of the baby growing in the womb. DNA testing can also be done before birth to confirm fetal ultrasound results. The condition can also be diagnosed after birth with a physical exam.
How can achondroplasia be treated?
While achondroplasia itself can’t be reversed, certain aspects of the condition can be corrected with bracing, orthotics, physical therapy or surgery. Our treatment goal with every child is to help him or her minimize pain and discomfort, improve confidence and avoid complications as they get older.
Can achondroplasia be cured?
Currently there are no treatments able to reverse achondroplasia, which is caused by mutations in a gene — called FGFR3 — that result in the excess production of proteins that slow bone growth, nor are there ways to treat the genetic culprit itself.
How do you test for achondroplasia?
What are the specific symptoms of achondroplasia?
Achondroplasia Symptoms
- Shortened arms and legs, with the upper arms and thighs more affected than the forearms and lower legs.
- Large head size with a prominent forehead and a flattened nasal bridge.
- Crowded or misaligned teeth.
How common is the achondrogenesis?
Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in 1 in 40,000 to 60,000 newborns.