| Faciocardiorenal syndrome | |
|---|---|
| Other names | Eastman Bixler syndrome |
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| Medical genetics | |
Faciocardiorenal syndrome is a rare genetic disorder characterized by facial dysmorphisms, congenital heart defects, and the presence of a horseshoe kidney, alongside intellectual disabilities. Facial dysmorphisms include protruding ears, narrowing of the mouth, cleft palate, hypertelorism, etc. Only 4 cases from the United States,Northern Ireland, and Mexico have been described in the medical literature. Transmission is, presumably, autosomal recessive.