Langer-Saldino syndrome is a rare genetic disorder that affects bone growth and development. It is characterized by a variety of symptoms including short stature, abnormally shaped bones in the arms and legs, and abnormalities of the skull and face. The condition is caused by mutations in the KIF7 gene and is inherited in an autosomal recessive pattern.
Achondrogenesis is a group of rare genetic disorders that affect bone growth and development. It is characterized by a lack of bone formation in the fetus, resulting in severe skeletal abnormalities and shortening of the limbs. The condition is usually fatal shortly after birth. There are two types of achondrogenesis: type I and type II. Type II is further divided into two subtypes: the Hirschsprung type and the Langer-Saldino type.
The Langer-Saldino subtype of achondrogenesis type II is a very rare form of the condition that is characterized by severe skeletal abnormalities and shortening of the limbs, similar to other forms of achondrogenesis. However, it also features additional abnormalities of the eyes, such as cataracts, and abnormalities of the brain and central nervous system. The condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal recessive pattern. There is no known cure for achondrogenesis type II, and treatment is generally supportive and aimed at managing symptoms.
