Spondyloepiphyseal dysplasia with metatarsal shortening
Last updated 19 Dec 2024
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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 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.
Description
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 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 curvature of the spine. Some people with SED with metatarsal shortening have progressive hearing loss.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal dominant+1 affected parent. More than one pattern can apply in different cases.
Related genes
Other names
Czech dysplasia, metatarsal type
Progressive pseudorheumatoid dysplasia with hypoplastic toes
SED with metatarsal shortening
SED with metatarsal shortening, COL2A1-related
Spondyloepiphyseal dysplasia with precocious osteoarthritis
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Metatarsalgia
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Newborn physical examinations
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Further reading and references
- Spondyloepiphyseal dysplasia with metatarsal shortening; MedlinePlus, National Library of Medicine.
- 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.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/
- 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.
- 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.
- 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.
- 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.
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