Achondrogenesis
Achondrogenesis
Achondrogenesis (pronounced as ah-kon-dro-gen-esis) is a rare type of genetic disorder that affects the development of the cartilage and bone.
Etymology
The term "Achondrogenesis" is derived from the Greek words "a-", meaning "without", "chondro", meaning "cartilage", and "genesis", meaning "beginning". Thus, it literally means "without the beginning of cartilage".
Definition
Achondrogenesis is a severe form of dwarfism that is usually lethal at birth or shortly thereafter. It is characterized by a small body, short limbs, and other abnormalities. The condition is caused by mutations in the COL2A1 or SLC26A2 genes.
Symptoms
Symptoms of Achondrogenesis may include micrognathia (small jaw), hydrops fetalis (buildup of fluid in the fetus), short limb dwarfism, and cleft palate. The severity of these symptoms can vary greatly among individuals.
Diagnosis
Diagnosis of Achondrogenesis is typically made through prenatal testing, such as ultrasound or genetic testing. These tests can identify the characteristic physical abnormalities associated with the condition and can also detect the specific genetic mutations that cause it.
Treatment
There is currently no cure for Achondrogenesis. Treatment is supportive and focuses on managing the symptoms and complications of the condition. This may include palliative care for pain and discomfort, as well as interventions to manage respiratory difficulties and other complications.
Prognosis
The prognosis for individuals with Achondrogenesis is generally poor, as most infants with the condition do not survive past the neonatal period. However, with advances in medical care and supportive therapies, some individuals may live into childhood or beyond.
See Also
External links
- Medical encyclopedia article on Achondrogenesis
- Wikipedia's article - Achondrogenesis
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