Faciocardiorenal syndrome
From Wikipedia, the free encyclopedia
| Faciocardiorenal syndrome | |
|---|---|
| Other names | Eastman Bixler syndrome[1] |
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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.[2] Facial dysmorphisms include protruding ears, narrowing of the mouth, cleft palate, hypertelorism, etc.[3] Only 4 cases from the United States,[4] Northern Ireland,[5] and Mexico[6] have been described in the medical literature.[7] Transmission is, presumably, autosomal recessive.[2]
