What is the prevalence of Focal Dermal Hypoplasia?
How many people does Focal Dermal Hypoplasia affect? Does it have the same prevalence in men and women? And in the different countries?
Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic disorder that primarily affects females. The prevalence of FDH is estimated to be around 1 in 50,000 to 1 in 250,000 individuals worldwide. This condition is characterized by various abnormalities, including skin changes, skeletal defects, and eye, dental, and limb abnormalities. FDH is caused by mutations in the PORCN gene and can vary in severity among affected individuals. Early diagnosis and management of symptoms are crucial for individuals with FDH to improve their quality of life and address specific medical needs.
Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome, is a rare genetic disorder that primarily affects females. The prevalence of FDH is estimated to be approximately 1 in 50,000 to 1 in 250,000 individuals worldwide. This condition is characterized by a wide range of symptoms and can vary in severity from person to person.
FDH is caused by mutations in the PORCN gene, which is responsible for the development of various tissues and organs during embryonic development. As a result, individuals with FDH may experience abnormalities in the skin, skeletal system, eyes, teeth, and other body parts.
Due to its rarity, FDH often goes undiagnosed or misdiagnosed, leading to challenges in determining the exact prevalence of the condition. Additionally, the wide spectrum of symptoms and their varying severity further complicates accurate prevalence estimation.
Early diagnosis and management of FDH are crucial in order to address the specific needs and potential complications associated with the disorder. Genetic counseling and multidisciplinary medical care are typically recommended for individuals with FDH to optimize their quality of life.
