Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. The disease is Monarch Disease Ontology term MONDO_0008808 (aplasia cutis congenita-intestinal lymphangiectasia syndrome). Also known as: Bronspiegel-Zelnick syndrome, autosomal recessive aplasia cutis.