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aplasia cutis congenita-intestinal lymphangiectasia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008808

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. [ Orphanet:1116 ]

Term info

database cross reference
  • SCTID:720500008 (MONDO:equivalentTo)
  • GARD:0000753 (MONDO:equivalentTo)
  • OMIM:207731 (Orphanet:1116/e)
  • MESH:C537788 (Orphanet:1116/e)
  • Orphanet:1116 (OMIM:207731)
Subsets

ordo_disease

definition

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.

exactMatch

http://identifiers.org/mesh/C537788, http://purl.obolibrary.org/obo/Orphanet_1116, https://omim.org/entry/207731, http://identifiers.org/snomedct/720500008

has exact synonym

autosomal recessive aplasia cutis, Bronspiegel-Zelnick syndrome

has related synonym

ACC with intestinal lymphangiectasia, aplasia cutis congenita with intestinal lymphangiectasia, aplasia cutis congenita intestinal lymphangiectasia

id

MONDO:0008808