Achondrogenesis-hypochondrogenesis is a rare genetic disorder that affects the development of bones and cartilage. It is a type of skeletal dysplasia, which refers to a group of genetic disorders that affect bone and cartilage growth and development.
Achondrogenesis-hypochondrogenesis is divided into two types, type I and type II, which have different signs and symptoms. Type I is also known as achondrogenesis type IA and is the more severe form. Babies with type I are typically stillborn or die soon after birth due to severe breathing difficulties. They also have short limbs, a small chest, a protruding abdomen, and a small jaw. Type II is also known as achondrogenesis type IIB and is less severe. Babies with type II may survive for a short period of time, but they have many of the same symptoms as those with type I, such as short limbs, a small chest, a protruding abdomen, and a small jaw.
Achondrogenesis-hypochondrogenesis is caused by mutations in several different genes, including the COL2A1 gene, which provides instructions for making a protein called type II collagen that is important for the development of bones and cartilage. The disorder is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.
Diagnosis of achondrogenesis-hypochondrogenesis is typically made prenatally or shortly after birth based on physical examination and imaging tests such as X-rays and ultrasound. Treatment is supportive and based on the individual’s symptoms. In some cases, surgical intervention may be necessary to correct deformities. Genetic counseling may also be recommended for affected individuals and their families.
