aplasia cutis congenita-intestinal lymphangiectasia syndrome
Findings
No curated finding names aplasia cutis congenita-intestinal lymphangiectasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008808), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Calvarial skull defectHPOHP:0001362
- Very frequent (80% to 99% of cases)
- LymphedemaHPOHP:0001004
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
Show the remaining 1
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Also called
- autosomal recessive aplasia cutisBronspiegel-Zelnick syndrome