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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Spondyloperipheral dysplasia

Reviewed July 2008

What is spondyloperipheral dysplasia?

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

How common is spondyloperipheral dysplasia?

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

What genes are related to spondyloperipheral dysplasia?

Spondyloperipheral dysplasia 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.

Mutations in the COL2A1 gene 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 signs and symptoms of spondyloperipheral dysplasia.

Related Gene(s)

Changes in this gene are associated with spondyloperipheral dysplasia.

  • COL2A1

How do people inherit spondyloperipheral dysplasia?

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

Where can I find information about diagnosis or management of spondyloperipheral dysplasia?

These resources address the diagnosis or management of spondyloperipheral dysplasia and may include treatment providers.

  • Genetic Testing Registry: Spondyloperipheral dysplasia (
  • MedlinePlus Encyclopedia: Nearsightedness (

You might also find information on the diagnosis or management of spondyloperipheral dysplasia 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 spondyloperipheral dysplasia?

You may find the following resources about spondyloperipheral dysplasia 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 spondyloperipheral dysplasia?

  • SPD
  • spondyloperipheral dysplasia with short ulna

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 spondyloperipheral dysplasia?

Ask the Genetic and Rare Diseases Information Center (

What glossary definitions help with understanding spondyloperipheral dysplasia?

autosomal ; autosomal dominant ; brachydactyly ; cartilage ; cell ; clubfoot ; collagen ; disability ; dysplasia ; gene ; inherited ; lordosis ; myopia ; nearsightedness ; protein ; short stature ; spectrum ; stature ; tissue ; ulna

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


  • Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet. 1996 May 3;63(1):123-8. (
  • Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. (


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: February 1, 2016