Marfanoid syndrome, De Silva type

Orpha code: 2464OMIM code: 223330

Definition

A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.

Disease data
Classification

Malformation syndrome

ORPHA code
2464
OMIM code
223330
ICD10 code
Q87.4
ICD11 code
-

No additional description.

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