Is Focal Dermal Hypoplasia hereditary?
Here you can see if Focal Dermal Hypoplasia can be hereditary. Do you have any genetic components? Does any member of your family have Focal Dermal Hypoplasia or may be more predisposed to developing the condition?
Focal Dermal Hypoplasia (FDH) is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the PORCN gene and follows an X-linked dominant inheritance pattern. This means that the condition can be passed down from an affected mother to both sons and daughters, with varying degrees of severity. However, new mutations can also occur spontaneously. Genetic counseling is recommended for individuals with FDH or a family history of the condition.
Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by abnormalities in the skin, skeleton, eyes, and other organs.
FDH is caused by mutations in the PORCN gene, which is located on the X chromosome. As a result, this disorder primarily affects females, although there have been a few reported cases in males with a more severe presentation.
The inheritance pattern of FDH is X-linked dominant, which means that a single copy of the mutated gene is sufficient to cause the disorder. In most cases, individuals with FDH inherit the mutation from their mother, who is typically an unaffected carrier. However, spontaneous mutations can also occur, leading to the development of FDH in individuals with no family history of the disorder.
It is important to note that not all individuals with the PORCN gene mutation will develop FDH. The severity and specific features of the disorder can vary widely among affected individuals, even within the same family. This phenomenon is known as variable expressivity.
Genetic counseling is recommended for individuals with FDH or those with a family history of the disorder. A genetic counselor can provide information about the risk of passing on the mutation, as well as discuss available testing options for family members.
