Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Orpha code: 1116OMIM code: 207731

Definition

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.

Disease data
Classification

Disease

Synonyms
Bronspiegel-Zelnick syndrome
Autosomalna recesywna aplazja skóry
Zespół Bronspiegela i Zelnicka
ORPHA code
1116
OMIM code
207731
ICD10 code
Q84.8
ICD11 code
LD27.Y

No additional description.

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