Achondrogenesis is a rare, genetic disorder that affects bone growth and development. It is a type of skeletal dysplasia, which is a group of conditions characterized by abnormalities in bone formation and growth.
There are two main types of achondrogenesis: type I and type II. Type I is also known as Parenti-Fraccaro syndrome, and type II is also known as Langer-Saldino syndrome.
The symptoms of achondrogenesis can vary depending on the type, but common features include short limbs, a small chest, and a large head in proportion to the body. Babies born with achondrogenesis may also have breathing problems, feeding difficulties, and a high risk of infections.
Achondrogenesis is caused by mutations in certain genes that are involved in bone development. These mutations can be inherited from one or both parents, or they can occur spontaneously in the developing fetus.
There is currently no cure for achondrogenesis, and treatment is based on the individual’s specific symptoms and needs. Treatment may include respiratory support, nutritional support, and physical therapy. In some cases, surgery may be necessary to address certain complications of the condition.
The prognosis for individuals with achondrogenesis is generally poor, and many affected infants do not survive past infancy. Those who do survive may have significant physical and developmental challenges throughout their lives.
