Kenny–Caffey syndrome

Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, farsightedness, microphthalmia, and skeletal abnormalities. This subtype of Kenny–Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.

This condition is extremely rare, as fewer than 60 confirmed cases have been reported in medical literature. KCS2 affects males and females in equal proportions, and is most often sporadic. However it can be transmitted by an affected mother to their offspring, like in the original family described by Kenny and Caffey. Other genetic variants in the same gene FAM111A may produce the related, but more severe disorder, osteocraniostenosis.

The condition was originally described by Frederic Kenny and Louis Linarelli in 1966 in a mother and her son. In 1967, John Caffey, a pediatric radiologist, described the radiographic aspects of the same family. The condition has since been called Kenny–Caffey syndrome. A somewhat similar, but recessively inherited condition known as Kenny–Caffey syndrome type 1 (KCS1) also exists. This recessive condition includes intellectual disability as a common symptom (unlike KCS2), and is also known as Sanjad–Sakati syndrome or hypoparathyroidism–retardation–dysmorphism syndrome.