Short answer · Medically reviewed summary · Last updated: 2023-07-13
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder characterized by skeletal abnormalities and impaired immune function. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The prevalence of CHH is estimated to be approximately 1 in 1,000,000 individuals worldwide.
What is the prevalence of Cartilage-hair hypoplasia (CHH)?
Prevalence of Cartilage-hair hypoplasia (CHH): how many people are affected worldwide, differences by sex and region, with sources.
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder characterized by skeletal abnormalities and impaired immune function. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
The prevalence of CHH is estimated to be approximately 1 in 1,000,000 individuals worldwide. However, the disorder is more common in certain populations, such as the Amish community, where the prevalence can be as high as 1 in 2,500 individuals.
CHH affects both males and females equally, and its symptoms can vary widely. The most prominent features include short stature, fine and sparse hair, and skeletal abnormalities such as shortened limbs and a narrow chest. Additionally, individuals with CHH often have a weakened immune system, making them more susceptible to infections.
Early diagnosis and management of CHH are crucial to optimize the quality of life for affected individuals. Genetic counseling is recommended for families with a history of CHH to understand the risks and options available.
