What Does CHH Stand For?

CHH stands for Cartilage Hair Hypoplasia

Cartilage Hair Hypoplasia (CHH) is a rare genetic disorder characterized by skeletal dysplasia, short stature, and distinctive hair features. It involves underdeveloped cartilage and hair follicles, leading to a variety of physical manifestations, including limb abnormalities and susceptibility to infections. CHH is caused by mutations in the RMRP gene, affecting ribosomal RNA processing. Diagnosis typically involves clinical evaluation and genetic testing, while management focuses on monitoring and addressing associated health issues.