Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is an inherited disease characterized by abnormal bone growth, causing short stature and other skeletal anomalies; blood and immune problems; and fine, sparse, light-colored hair. Symptoms associated with cartilage-hair hypoplasia are due to the disruption of normal cellular function, primarily affecting the skeletal and immune systems. Cartilage-hair hypoplasia belongs to a group of disorders known as cartilage-hair hypoplasia–anauxetic dysplasia (CHH-AD) spectrum disorders, and is also known as McKusick's metaphyseal chondrodysplasia syndrome. View testing options