Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. People with this condition typically have joint pain that begins in late childhood or adolescence. The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair their mobility. Due to these severe joint problems, people with SED with metatarsal shortening may require joint replacement in early adulthood.

People with SED with metatarsal shortening often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in the space between the vertebrae, or an abnormal spinal curvature. Some people with SED with metatarsal shortening have progressive hearing loss.

SED with metatarsal shortening is rare; as of 2020, fewer than 15 families have been reported with this condition.

SED with metatarsal shortening is caused by a particular variant (also called a mutation) in the COL2A1 gene. The COL2A1 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 makes up much of the skeleton during early development. Most cartilage is later replaced by bone, except for the cartilage that continues to cover and protect the ends of bones and the cartilage that 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.

The variant that causes SED with metatarsal shortening replaces one protein building block (amino acid) known as arginine in the COL2A1 protein with another amino acid known as cysteine. This COL2A1 gene variant interferes with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.

Genetic Testing Information

• Genetic Testing Registry: Spondyloepiphyseal dysplasia with metatarsal shortening

Genetic and Rare Diseases Information Center

• Spondyloepiphyseal dysplasia with metatarsal shortening

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Catalog of Genes and Diseases from OMIM

• CZECH DYSPLASIA

Scientific Articles on PubMed

• PubMed

• Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr;22(2):76-80. doi: 10.1097/MCD.0b013e32835fff39. Citation on PubMed
• Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/ Citation on PubMed
• Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Citation on PubMed
• Kozlowski K, Marik I, Marikova O, Zemkova D, Kuklik M. Czech dysplasia metatarsal type. Am J Med Genet A. 2004 Aug 15;129A(1):87-91. doi: 10.1002/ajmg.a.30132. Citation on PubMed
• Marik I, Marikova O, Zemkova D, Kuklik M, Kozlowski K. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol. 2004 Mar;33(3):157-64. doi: 10.1007/s00256-003-0708-z. Epub 2004 Jan 17. Citation on PubMed
• Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389. Citation on PubMed