Cartilage-Hair Hypoplasia (CHH) is an inherited disorder that results in extremely short stature with shortened arms and legs as well as other skeletal abnormalities. People with CHH may also have fine, sparse hair and mild to severe immune system deficiency. As a result, they have a much higher risk of infections and autoimmune disorders. They also have a higher risk of developing certain kinds of cancers. Individuals with CHH may have gastrointestinal problems such as Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Intellectual disability or learning problems may occur in people who have the severe spectrum of CHH. The life expectancy of individuals with CHH may be decreased due to the risk of infections and cancers. There is no cure for CHH but medical surveillance and care may help to improve some symptoms and overall condition of life. CHH is caused by pathogenic variants in the RMRP gene.