Synonyms
SEMD; Spondyloepiphyseal dysplasia; SED; Spondyloepiphyseal dysplasia congenita; SEDC; Wolkott-Rallison; Dyggre-Melchior-Clausen; DMC
Definition and Characteristics
Spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders defined by the combination of vertebral, epiphyseal, and metaphyseal anomalies. The International classification recognizes at least 18 distinct entities within this group [1]. The majority of these entities are rare with less than 15 reported cases, and some of them have been described in unique family like SEMD Pakistani type or SEMD matrilin type. Table 1summarizes the most frequent forms of SEMD with their mode of inheritance. The majority of them are still purely defined on clinical and radiological features. The presenting symptom of SEMD patients is usually disproportionate short stature. Several SEMD are also classified in the spondyloepiphyseal dysplasia (SED) group such as SEMD handigodu type, Schimke immuno-osseous...
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References
Superti-Furga A, Unger S (2007) Am J Med Genet A 143:1–18
Superti-Furga A, Bonafe L, Rimoin DL (2001) Am J Med Genet 106:282–293
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Geneviève, D., Cormier-Daire, V. (2009). Spondylo-Epi-Metaphyseal Dysplasia. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1658
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1658
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
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