Spondyloepiphyseal dysplasia with marked metaphyseal changes
Last updated 20 Dec 2024
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Spondyloepiphyseal dysplasia (SED) with marked metaphyseal changes is a group of rare skeletal disorders. People with SED with marked metaphyseal changes have abnormalities of the spine (spondylo-) and the regions near the ends (metaphyses) and at the ends (epiphyses) of the long bones in the arms and legs. The severity of the signs and symptoms can vary from person to person.
Description
Spondyloepiphyseal dysplasia (SED) with marked metaphyseal changes is a group of rare skeletal disorders. People with SED with marked metaphyseal changes have abnormalities of the spine (spondylo-) and the regions near the ends (metaphyses) and at the ends (epiphyses) of the long bones in the arms and legs. The severity of the signs and symptoms can vary from person to person.
People with SED with marked metaphyseal changes may have a short torso, shortened arms and legs, and flattened bones of the spine (platyspondyly), which all lead to short stature. People with SED with marked metaphyseal changes may develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck can cause these bones to shift, which increases the risk of damage to the spinal cord.
Other features of SED with marked metaphyseal changes may include legs that curve outward or inward (valgus or varus deformity) and irregular bone formation (ossification) in the long bones. Changes in the position of the thigh bone where it meets the hip joint can cause difficulty walking. Affected individuals may also have joint pain, swollen joints, and joint deformities (contractures). Arthritis may develop early in life.
The conditions that make up SED with marked metaphyseal changes were once thought to be distinct disorders, but they are now considered to be part of the same disease spectrum. These conditions include spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-S); spondylometaphyseal dysplasia, Algerian type (SMD-A); spondyloepiphyseal dysplasia, Stanescu type (SED-S); some cases of spondylometaphyseal dysplasia, corner fracture type (SMDCF); and dysspondyloenchondromatosis (DSC).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
SED with marked metaphyseal changes
Spondyloepimetaphyseal dysplasia, COL2A1-related
Related patient information and medicines
Patient information leaflet
Restricted growth
Diastrophic dysplasia (DTD). A rare genetic condition where limbs are shortened. It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears. Spondo-epiphyseal dysplasia (SED). This is a group of conditions where the trunk is affected more than the limbs, due to a problem in the.
Patient information leaflet
Hip problems
For example, a back problem can cause pain in the hip area and hip problems can be felt as pain in the knee on the same side of the body. Causes of hip problems in children Developmental dysplasia of the hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely.
Patient information leaflet
Living with a long-term condition
A long-term condition cannot be cured but its symptoms and complications may be controlled with treatment. Examples are arthritis, asthma, diabetes, epilepsy and high blood pressure. Long-term conditions can have an effect on your role within the family, your job, where you live, your education and your finances. However, there are many sources of.
Patient information leaflet
Newborn physical examinations
Your baby will have a head to toe examination by a healthcare professional (usually a doctor) within the first three days (or 72 hours) of birth. A very similar examination is also performed when your baby is around 6 weeks old. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with.
Patient information leaflet
Radiotherapy
Radiotherapy is used increasingly to treat some cancers. What is radiotherapy. Radiotherapy is a treatment for cancer. This may be breast cancer , lung cancer , testicular cancer , or any other type. High-energy beams of radiation are focused on cancerous tissue. This kills cancer cells or stops cancer cells from multiplying. Radiotherapy is.
Patient information leaflet
Treating newborn health problems
However, if your baby is found to have a murmur... In some cases there may be a problem with the structure of the heart, and an operation may be needed to fix it. Clicky hips: if it is thought that your child might have hips which are not stable ( developmental dysplasia ), he or she would be referred for an ultrasound scan in the first place. If.
Further reading and references
- Spondyloepiphyseal dysplasia with marked metaphyseal changes; MedlinePlus, National Library of Medicine.
- Amirfeyz R, Taylor A, Smithson SF, Gargan MF. Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type. J Pediatr Orthop B. 2006 Jan;15(1):41-4. doi: 10.1097/01202412-200601000-00009.
- England J, Campeau PM. Spondylometaphyseal Dysplasia, Corner Fracture Type. 2020 Mar 19 [updated 2025 May 22]. 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/NBK555103/
- Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G. COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type. Mol Syndromol. 2013 Mar;4(3):148-51. doi: 10.1159/000346644. Epub 2013 Jan 30.
- Merrick B, Calder A, Wakeling E. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S). Am J Med Genet A. 2015 Dec;167A(12):3103-7. doi: 10.1002/ajmg.a.37282. Epub 2015 Aug 6.
- Nakane T, Tando T, Aoyagi K, Hatakeyama K, Nishimura G, Coucke IP, Mortier G, Sugita K. Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia? Mol Syndromol. 2011 Dec;2(1):21-26. doi: 10.1159/000333098. Epub 2011 Oct 18.
- Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87.
- Travessa AM, Diaz-Gonzalez F, Mirco T, Oliveira-Ramos F, Parron-Pajares M, Heath KE, Sousa AB. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy. Am J Med Genet A. 2020 Nov;182(11):2715-2721. doi: 10.1002/ajmg.a.61817. Epub 2020 Aug 28.
- Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia. QJM. 2003 Sep;96(9):663-71. doi: 10.1093/qjmed/hcg112.
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.
- Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet A. 2007 Jan 15;143A(2):161-7. doi: 10.1002/ajmg.a.31516.
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