What is Achondrogenesis

Achondrogenesis is a rare genetic disorder that affects bone development in infants. It is characterized by severe dwarfism, where affected individuals have extremely short limbs and a small body size. This condition is caused by mutations in specific genes that are involved in the formation of cartilage and bone.

Achondrogenesis is divided into two main types:

1. Achondrogenesis type 1: This is the more severe form, resulting in stillbirth or death shortly after birth. Infants with this type have underdeveloped lungs and a narrow chest, leading to respiratory problems.


2. Achondrogenesis type 2: This form is less severe, allowing affected individuals to survive beyond infancy. However, they still experience significant health issues, including respiratory difficulties, joint deformities, and a shortened lifespan.

Diagnosis of achondrogenesis is typically made through prenatal ultrasound or genetic testing. Unfortunately, there is currently no cure for this condition. Treatment focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals and their families.