What is the prevalence of Stuve-Wiedemann Syndrome?
How many people does Stuve-Wiedemann Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Stuve-Wiedemann Syndrome is an extremely rare genetic disorder characterized by skeletal abnormalities and other associated features. The prevalence of this syndrome is estimated to be very low, with only a few dozen cases reported worldwide. Due to its rarity, it is considered an orphan disease. Stuve-Wiedemann Syndrome is inherited in an autosomal recessive manner, meaning both parents must carry the gene mutation for a child to be affected. Early diagnosis and management are crucial for individuals with this condition to improve their quality of life.
Stuve-Wiedemann Syndrome is an extremely rare genetic disorder that affects multiple systems in the body. Due to its rarity, it is challenging to determine the exact prevalence of this syndrome. However, it is estimated that the prevalence of Stuve-Wiedemann Syndrome is approximately 1 in 500,000 to 1 in 1,000,000 individuals worldwide.
This syndrome is characterized by various symptoms, including skeletal abnormalities, respiratory difficulties, feeding difficulties, and a high risk of life-threatening complications during infancy. The severity of symptoms can vary widely among affected individuals, making diagnosis and management complex.
Stuve-Wiedemann Syndrome is caused by mutations in the LIFR gene, which plays a crucial role in skeletal development and muscle function. The inheritance pattern of this syndrome is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Due to the rarity of Stuve-Wiedemann Syndrome, it is important for affected individuals and their families to seek specialized medical care and support. Genetic counseling can also be beneficial for families with a history of this syndrome, as it can provide information about the risk of recurrence in future pregnancies.
