Kenny-Caffey syndrome

Kenny-Caffey syndrome type 2 is an extremely rare autosomal dominant genetic condition characterised by dwarfism, farsightedness, small eyes and skeletal abnormalities. It is caused by a heterozygous mutation in the FAM111A gene on chromosome 11. Fewer than sixty confirmed cases have been reported, males and females are affected equally, and it is most often sporadic, although an affected mother can pass it to her children. Frederic Kenny and Louis Linarelli described it in 1966 in a mother and her son, and the pediatric radiologist John Caffey described the radiographic findings of the same family in 1967. A recessive type 1, which usually includes intellectual disability, is also known as Sanjad-Sakati syndrome. This entry is a reference record and not medical advice.