Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, farsightedness, microphthalmia, and skeletal abnormalities.
Affected individuals may have unusually small eyes (microphthalmia), swelling of the optic disk due to leakage of cerebrospinal fluid (papilledema), and farsightedness.
Symptoms often include weakness, muscle cramps, excessive nervousness, loss of memory, headaches, and abnormal sensations such as tingling and numbness of the hands.
They may also exhibit liver disease during the first month of life, abnormally low levels of white blood cells, improper function of T-cells, intellectual disabilities, and/or underdeveloped, malformed nails.
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.
[1] Common methods of controlling hypocalcemia include the taking of oral calcium and vitamin D supplements.
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.