Achondrogenesis type II

Achondrogenesis type II (also known as Langer-Saldino achondrogenesis) is a rare, lethal genetic disorder affecting the development of the skeletal system. It is one of the types of achondrogenesis, a group of severe disorders that are present from birth and affect the development of cartilage and bone.

Etiology

Achondrogenesis type II is caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen, a molecule that provides structure and strength to connective tissues throughout the body. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

Clinical Features

Infants with achondrogenesis type II have short arms and legs, a small chest with short ribs, and underdeveloped lungs. They may also have an abnormally large head (macrocephaly), a small chin (micrognathia), and a prominent forehead. The spine and pelvis are also severely affected. Most infants with achondrogenesis type II are stillborn or die shortly after birth from respiratory failure.

Diagnosis

The diagnosis of achondrogenesis type II can be challenging due to its rarity and the overlap of clinical features with other skeletal dysplasias. It is often diagnosed based on physical features at birth and confirmed by genetic testing for mutations in the COL2A1 gene. Prenatal diagnosis is possible through ultrasound findings and genetic testing.

Treatment and Management

There is currently no cure for achondrogenesis type II. Management is supportive and focuses on the specific symptoms present in each individual. This may include respiratory support for underdeveloped lungs and other supportive care.

Prognosis

The prognosis for achondrogenesis type II is poor, with most infants dying shortly after birth due to respiratory failure. However, with advances in medical care and supportive therapies, some children with less severe forms of the disorder have lived into childhood.

See Also

• Achondrogenesis
• COL2A1
• Genetic disorder
• Skeletal dysplasia

References

• OMIM - Online Mendelian Inheritance in Man
• GeneReviews
• Orphanet

NIH genetic and rare disease info

• NIH info on Achondrogenesis type II

Achondrogenesis type II is a rare disease.

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