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aplasia cutis congenita-intestinal lymphangiectasia syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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 Term and Equivalent IDs
MONDO:0008808:  aplasia cutis congenita-intestinal lymphangiectasia syndrome
GARD:0000753: 
MESH:C537788: 
Orphanet:1116: 
SCTID:720500008: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found