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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.

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 treatment for platyspondylic lethal skeletal dysplasia, Torrance type?

You may find information on treatment or management of platyspondylic lethal skeletal dysplasia, Torrance type, or some of its symptoms in the links below, particularly the links for MedlinePlus Encyclopedia, Educational resources, and Patient support.

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.

  • MedlinePlus - Health information
    • Encyclopedia: Lordosis (http://www.nlm.nih.gov/medlineplus/ency/article/003278.htm)
    • Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
    • Health Topic: Connective Tissue Disorders (http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html)
    • Health Topic: Dwarfism (http://www.nlm.nih.gov/medlineplus/dwarfism.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Arthritis and Musculoskeletal and Skin Diseases (http://www.niams.nih.gov/Health_Info/Connective_Tissue/)
  • Educational resources - Information pages
    • Nemours Foundation: Skeletal Dysplasia (http://www.nemours.org/hospital/de/aidhc/service/skeletal.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1417)
  • Patient support - For patients and families
    • Family Village (http://www.familyvillage.wisc.edu/lib_grow.htm)
    • Human Growth Foundation (http://www.hgfound.org/)
    • International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center (http://www.csmc.edu/3805.html)
    • Little People of America (http://www.lpaonline.org/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/dwarfism.html)

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

  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=84314)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((platyspondylic+skeletal+dysplasia[TIAB])+OR+(platyspondylic+lethal+skeletal+dysplasia[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Disorders of Collagen Biosynthesis and Structure (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=205)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151210)

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about platyspondylic lethal skeletal dysplasia, Torrance type?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

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

autosomal ; autosomal dominant ; brachydactyly ; cartilage ; cell ; chondrocyte ; collagen ; connective tissue ; domain ; dwarfism ; dysplasia ; fetus ; gene ; lordosis ; molecule ; mutation ; new mutation ; protein ; respiratory ; sign ; spectrum ; symptom ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Neumann L, Kunze J, Uhl M, Stover B, Zabel B, Spranger J. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol. 2003 Nov;33(11):786-90. Epub 2003 Sep 5. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12961049)
  • Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004 Jan;41(1):75-9. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14729840)
  • Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133(1):61-7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15643621)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2008
Published: May 4, 2009