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Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although it's phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia purpura.It is a type of immunoosseous dysplasia.

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  • Spondyloenchondrodysplasie (de)
  • Spondyloenchondrodysplasia (en)
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  • Die Spondyloenchondrodysplasie (SPENCD) ist eine sehr seltene angeborene Skelettdysplasie mit Fehlbildungen der Wirbelkörper und Enchondromen. Synonyme sind: Spondylometaphysäre Dysplasie mit enchondromatösen Veränderungen; Dysplasie, spondylometaphysäre - kombinierter Immundefekt; Roifman-Melamed-Syndrom; Enchondromatose Typ IV nach Spranger Die Erstbeschreibung stammt aus dem Jahre 1976 durch den israelischen Radiologen Samuel Schorr und Mitarbeiter. Die (veraltete) Namensbezeichnung bezieht sich auf eine Arbeit aus dem Jahre 2003 durch die kanadischen Ärzte Chaim M. Roifman und I Melamed. (de)
  • Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although it's phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia purpura.It is a type of immunoosseous dysplasia. (en)
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  • Spondyloenchondrodysplasia (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Protein_ACP5_PDB_1war.png
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