Kenny–Caffey syndrome

Kenny-Caffey syndrome type 2 is often congenital (present at birth), as low birth weight is one of the first symptoms. Individuals with the condition have various bone abnormalities that affect the skeleton, head, and eyes. == Diagnosis ==

Due to the rarity of the disease, there is no definitive method of testing for KCS2. Diagnosis of KCS2 usually involves using X-ray studies of the skeleton to reveal distinctive thickening of the outer layers (cortexes) of long bones along with unusually thin marrow cavities. Blood tests can detect episodes of low levels of calcium in the blood (hypocalcemia). == Management or treatment ==

Treatment may be required to control hypocalcemia and to correct the ocular refraction anomalies. Other than this there is a lack of well-established methods for treatment and the symptoms can only be managed by the aforementioned methods. == Genetics ==

Kenny–Caffey syndrome type 2 has an autosomal dominant inheritance pattern, not to be confused with the autosomal recessive Kenny–Caffey syndrome type 1. The FAM111A gene is located at 11q12.1 and mutations of the gene are not only responsible for KCS2, but also gracile bone dysplasia (osteocraniostenosis). The gene FAM111A codes for a 611 amino acid protein that resembles a trypsin-like-peptidase, but the protein's native function is unknown. What is apparent, however, is that FAM111A codes for a protein that is crucial to pathways that govern parathyroid hormone production, calcium homeostasis, and skeletal development and growth. Very little is known about differing severities of Kenny–Caffey syndromes because of the very limited number of affected individuals, but it is known that OCS and KCS2 have different severities and they result from mutations at the same locus. == Epidemiology ==

Because there have only been 60 reported cases of Kenny–Caffey syndrome in medical literature, there are not enough cases to make the generalizations required to develop an epidemiological understanding of this disease. == References ==