Achondrogenesis type 2
Achondrogenesis type 2 (pronounced as a-kon-dro-gen-e-sis type two) is a rare, lethal genetic disorder affecting the development of the skeletal system in infants.
Etymology
The term "Achondrogenesis" is derived from the Greek words 'a' meaning without, 'chondro' meaning cartilage, and 'genesis' meaning formation. The term thus refers to a condition where there is a lack of cartilage formation. The "type 2" designation indicates the second of three identified types of this disorder, each with different genetic causes and physical manifestations.
Definition
Achondrogenesis type 2 is a severe form of dwarfism characterized by short limbs, a small body, and underdeveloped lungs. It is caused by mutations in the COL2A1 gene, which is responsible for the formation of type II collagen, a protein that adds structure and strength to connective tissues.
Symptoms
The symptoms of Achondrogenesis type 2 may include micrognathia (small jaw), hydrops fetalis (abnormal accumulation of fluid in the fetus), and polyhydramnios (excessive amniotic fluid).
Diagnosis
Diagnosis of Achondrogenesis type 2 is typically made through ultrasound imaging during pregnancy, revealing characteristic skeletal abnormalities. Postnatal diagnosis can be confirmed through genetic testing for mutations in the COL2A1 gene.
Treatment
There is currently no cure for Achondrogenesis type 2. Treatment is supportive and focuses on managing symptoms and complications.
Prognosis
The prognosis for Achondrogenesis type 2 is poor, with most infants not surviving beyond the neonatal period due to respiratory failure.
See Also
External links
- Medical encyclopedia article on Achondrogenesis type 2
- Wikipedia's article - Achondrogenesis type 2
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