Faciocardiorenal syndrome

Other Names: Eastman Bixler syndrome

A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.

Epidemiology

Four cases have been reported in the literature in two unrelated families.

Inheritance

Autosomal recessive inheritance, a 25% chance

The condition is probably hereditary, and transmitted as an autosomal recessive trait.

Signs and symptoms

Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cleft palate(Cleft roof of mouth)
• Horseshoe kidney(Horseshoe kidneys)
• [[Hypertelorism](Wide-set eyes)
• Hypodontia(Failure of development of between one and six teeth)
• Intellectual disability(Mental deficiency)
• Plagiocephaly(Flat head syndrome)
• Protruding ear(Prominent ear)
• Smooth philtrum
• Underdeveloped nasal alae(Underdeveloped tissue around nostril)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Endocardial fibroelastosis

5%-29% of people have these symptoms

• Failure to thrive(Faltering weight)
• Narrow mouth(Small mouth)
• Tricuspid valve prolapse

NIH genetic and rare disease info

• NIH info on Faciocardiorenal syndrome

Faciocardiorenal syndrome is a rare disease.

Faciocardiorenal syndrome Resources
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