What is the prevalence of Cartilage-hair hypoplasia (CHH)?
How many people does Cartilage-hair hypoplasia (CHH) affect? Does it have the same prevalence in men and women? And in the different countries?
Cartilage-hair hypoplasia (CHH) is a rare genetic disorder characterized by impaired bone growth, short stature, and sparse hair. It is estimated to affect approximately 1 in 1 million individuals worldwide. CHH is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected. The condition primarily affects individuals of Finnish descent, with a higher prevalence in this population. Diagnosis is typically made through clinical evaluation and genetic testing. Management involves addressing specific symptoms and providing supportive care.
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.
