Atelosteogenesis, Type 2

What is atelosteogenesis, type 2?

Atelosteogenesis, type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterised by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and downward-turning foot (a clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis, type 2 tends to be more severe. Infants with this disorder are usually stillborn or die shortly after birth from respiratory failure. Some affected infants have survived for a time with intensive medical support.

How common is atelosteogenesis, type 2?

Atelosteogenesis, type 2 is an extremely rare genetic disorder; its incidence is unknown.

What genes are related to atelosteogenesis, type 2?

Mutations in the SLC26A2 gene cause atelosteogenesis, type 2.

Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.

How do people inherit atelosteogenesis, type 2?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for atelosteogenesis, type 2?

  • AO2
  • Atelosteogenesis de la Chapelle type
  • De la Chapelle dysplasia
  • McAlister dysplasia
  • Neonatal osseous dysplasia 1

© Medic8 ® All Rights Reserved.