About: Aplasia cutis congenita-intestinal lymphangiectasia syndrome     Goto   Sponge   NotDistinct   Permalink

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Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. It has been described in two Ashkenazi Jewish brothers.

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  • Bronspiegel-Zelnick-Syndrom (de)
  • Aplasia cutis congenita-intestinal lymphangiectasia syndrome (en)
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  • Das Bronspiegel-Zelnick-Syndrom, Synonym: Aplasia cutis congenita, autosomal-rezessive (ACC) ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Aplasia cutis congenita und intestinaler Lymphangiektasie. Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1985 durch die Ärzte N. Bronspiegel und N. Zelnick und Mitarbeiter. (de)
  • Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. It has been described in two Ashkenazi Jewish brothers. (en)
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deaths
  • - (en)
onset
  • Birth (en)
symptoms
  • A combination of aplasia cutis congenita and lymphangiectasia (en)
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frequency
  • very rare, only two cases have been described in medical literature (en)
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  • Das Bronspiegel-Zelnick-Syndrom, Synonym: Aplasia cutis congenita, autosomal-rezessive (ACC) ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Aplasia cutis congenita und intestinaler Lymphangiektasie. Die Bezeichnung bezieht sich auf die Erstautoren der Erstbeschreibung aus dem Jahre 1985 durch die Ärzte N. Bronspiegel und N. Zelnick und Mitarbeiter. (de)
  • Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. It has been described in two Ashkenazi Jewish brothers. (en)
complications
prevention
  • none (en)
prognosis
  • Bad (en)
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