 Kenny-Cathy syndrome, KCS, also known as TBCE syndrome, is a rare autosomal recessive slash dominant disorder caused by mutations in the FAM118 gene. It is characterized by hypoperathyroidism, skeletal dysplasia, short stature, and facial dysmorphism. A male infant was born with compound heterozygous variants in the FAM118 gene, resulting in an autosomal dominant transition. This variant was associated with hypocalcemia, which led to death within two days of birth. The patient's sister, who was also affected by the same mutated gene, died at age three months due to septicaemia. The patient's phenotype is consistent with osteocraniosthenosis, OCS, a severe form of KCS type 2. The detected variants in the FAM118 gene may explain the disease genetically. This article was authored by Erdel Ehren, Havateskin, Unlew, Sirdar Siliner, and others.