What is the prevalence of Pfeiffer Syndrome?
How many people does Pfeiffer Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Pfeiffer Syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of the skull bones) and abnormalities in the hands and feet. It is estimated to affect approximately 1 in 100,000 to 1 in 200,000 live births worldwide. The syndrome has been classified into three subtypes, with Type 1 being the most common. Pfeiffer Syndrome is caused by mutations in certain genes and can vary in severity. Early diagnosis and appropriate medical management are crucial for individuals with this condition.
Pfeiffer Syndrome is a rare genetic disorder characterized by craniosynostosis, which is the premature fusion of certain skull bones, leading to abnormal head shape and facial features. It is also associated with broad thumbs and big toes, as well as varying degrees of syndactyly (fusion) of the fingers and toes.
The prevalence of Pfeiffer Syndrome is estimated to be around 1 in 100,000 to 1 in 200,000 live births. Although it is considered a rare condition, it is important to note that there are different types and subtypes of Pfeiffer Syndrome, each with varying degrees of severity.
Type 1 is the most common and typically less severe form, accounting for approximately 75% of cases. Type 2 is less common but more severe, while Type 3 is extremely rare and associated with life-threatening complications.
Due to its rarity, Pfeiffer Syndrome often requires specialized medical care and multidisciplinary management involving geneticists, craniofacial surgeons, orthopedic specialists, and other healthcare professionals. Early diagnosis and intervention are crucial for optimizing treatment outcomes and improving the quality of life for individuals affected by this condition.
