HEC syndrome

Orpha code: 2119OMIM code: 600559

Definition

A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.

Disease data
Classification

Malformation syndrome

Synonyms
Hydrocephalus-endocardial fibroelastosis-cataract syndrome
Wodogłowie - fibroelastoza endokardialna - zaćma
ORPHA code
2119
OMIM code
600559
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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