Kenny-Caffey Syndrome is a rare genetic disorder characterized by skeletal abnormalities and developmental delays. It is caused by mutations in the TCF4 gene. The syndrome can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Genetic counseling is recommended for families with a history of Kenny-Caffey Syndrome to assess the risk of passing on the condition.
Kenny-Caffey Syndrome is a rare genetic disorder that affects bone development and growth. It is characterized by short stature, thickened long bones, and abnormalities in the shape of the head and face. The syndrome is caused by mutations in the TCF4 gene, which is responsible for regulating the production of certain proteins involved in bone development.
As with many genetic disorders, the inheritance pattern of Kenny-Caffey Syndrome can vary. In most cases, the condition is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the syndrome. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will have Kenny-Caffey Syndrome.
However, in some rare cases, Kenny-Caffey Syndrome can be inherited in an autosomal dominant manner. This means that an affected individual only needs to inherit one copy of the mutated gene from either parent to develop the syndrome. In these cases, there is a 50% chance with each pregnancy that the child will inherit the syndrome.
It is important to note that not all individuals with Kenny-Caffey Syndrome have a family history of the condition. In some cases, the syndrome may occur due to a spontaneous mutation in the TCF4 gene.
Genetic counseling is recommended for individuals or families affected by Kenny-Caffey Syndrome to understand the specific inheritance pattern and the risks associated with future pregnancies. Genetic testing can also be performed to identify the presence of the mutated gene.