achondrogenesis type II

Achondrogenesis type II (also known as achondrogenesis, Langer-Saldino type, or ACG2) is a very rare skeletal disorder that affects the development of the bones. It is part of a group of conditions related to type 2 collagen and manifests with severe changes in skeletal formation. The condition is recognized by a set of distinct physical features that affect the overall shape and growth of the body. In people with this condition, the bones are underdeveloped and the overall skeletal structure is severely affected. The disorder is known for its severe micromelia (shortened limbs), a short neck accompanied by a large head, a small chest, and a protuberant abdomen. Additional facial features may include a prominent forehead, a small chin, and in some cases, a cleft palate. These characteristics are related to the abnormal development of cartilage, which is an important precursor to bone formation.

People with achondrogenesis type II often exhibit several notable symptoms. These include very short limbs (micromelia), a short neck with a relatively large head, and a small thorax. Other features include a prominent forehead, a small chin, and sometimes a cleft palate. The chest may be small and the abdomen protuberant. The lungs in affected individuals are underdeveloped, which has important impacts on the body’s ability to breathe.

This condition is caused by changes in the COL2A1 gene, which plays a critical role in producing type 2 collagen. Type 2 collagen is essential for the normal development of cartilage and bone. Mutations in this gene lead to the abnormal formation of cartilage, which in turn affects bone growth, leading to the multiple skeletal abnormalities that are characteristic of achondrogenesis type II.

Information about treatment is currently limited for this condition.

Achondrogenesis type II is considered a lethal condition. The severe abnormalities in bone and lung development greatly affect the overall outlook. While some aspects of the condition's progression are understood, detailed information about long-term outcomes and quality of life is limited.

Information about research is currently limited for this condition. Ongoing studies may help to better understand the role of the COL2A1 gene and improve insights into skeletal dysplasias related to type 2 collagen.