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Platyspondylic lethal skeletal dysplasia, Torrance type

Platyspondylic lethal skeletal dysplasia, Torrance type

Reviewed July 2008

What is platyspondylic lethal skeletal dysplasia, Torrance type?

Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs.

As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood.

How common is platyspondylic lethal skeletal dysplasia, Torrance type?

This condition is very rare; only a few affected individuals have been reported worldwide.

What genes are related to platyspondylic lethal skeletal dysplasia, Torrance type?

Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. 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. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.

All of the COL2A1 mutations that have been found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type.

Read more about the COL2A1 gene.

How do people inherit platyspondylic lethal skeletal dysplasia, Torrance type?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type?

These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type, and may include treatment providers.

You might also find information on the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type, 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 platyspondylic lethal skeletal dysplasia, Torrance type?

You may find the following resources about platyspondylic lethal skeletal dysplasia, Torrance type, 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 platyspondylic lethal skeletal dysplasia, Torrance type?

  • platyspondylic chondrodysplasia, Torrance-Luton type
  • platyspondylic skeletal dysplasia, Torrance type
  • PLSD-T
  • PLSD-TL

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 platyspondylic lethal skeletal dysplasia, Torrance type?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding platyspondylic lethal skeletal dysplasia, Torrance type?

autosomal ; autosomal dominant ; brachydactyly ; cartilage ; cell ; collagen ; domain ; dwarfism ; dysplasia ; gene ; inherited ; lordosis ; mutation ; protein ; respiratory ; spectrum ; tissue

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

See also Understanding Medical Terminology.

References (3 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: July 2008
Published: July 28, 2014