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Atelosteogenesis type 2

Atelosteogenesis type 2

Reviewed February 2008

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 characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (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 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

Read more about diastrophic dysplasia.

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?

Atelosteogenesis type 2 is one of several 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.

Read more about the SLC26A2 gene.

How do people inherit atelosteogenesis type 2?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of atelosteogenesis type 2?

These resources address the diagnosis or management of atelosteogenesis type 2 and may include treatment providers.

You might also find information on the diagnosis or management of atelosteogenesis type 2 in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about atelosteogenesis type 2?

You may find the following resources about atelosteogenesis type 2 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for atelosteogenesis type 2?

  • AO2
  • Atelosteogenesis de la Chapelle type
  • atelosteogenesis, type 2
  • De la Chapelle dysplasia
  • McAlister dysplasia
  • Neonatal osseous dysplasia 1

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about atelosteogenesis type 2?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding atelosteogenesis type 2?

autosomal ; autosomal recessive ; cartilage ; cell ; cleft palate ; clubfoot ; dysplasia ; gene ; incidence ; neonatal ; palate ; protein ; recessive ; respiratory ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (4 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: February 2008
Published: April 17, 2014