aplasia cutis congenita-intestinal lymphangiectasia syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0005020
intestinal disorder
is_a
MONDO:0019175
primary lymphedema
is_a
MONDO:0019294
mixed dermis disorder
is_a
Bronspiegel-Zelnick syndrome
exact
aplasia cutis congenita intestinal lymphangiectasia
related
autosomal recessive aplasia cutis
exact