See Also: Cartilage hair hypoplasia syndrome(health)
cartilage-hair hypoplasia(medicine)
syndrome, kinky hair(medicine)
kinky hair syndrome(medicine)
Menkes kinky-hair syndrome(medicine)
Hair analysis (hair element analysis, hair mineral analysis, hair-shaft analysis)(health)
hypoplasia(dictionary)
Hypoplasia(health)
Hypoplasia(medicine)
hypoplasia of right ventricle(medicine)

Cartilage hair hypoplasia syndrome (health)


A specific genetic form of short-limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are usually loose-jointed and the fingernails foreshortened. Biopsy shows hypoplasia (underdevelopment) of cartilage to be the nature of the skeletal abnormality. The hair is unusually fine, sparse and light-colored. Microscopically, it has an abnormally small caliber. Many patients with cartilage hair hypoplasia have a major immunologic defect that is manifested, for example, as an unusual susceptibility to chickenpox. In addition to lymphopenia (lack of lymphocytes), some patients have anemia and neutropenia (lack of neutrophiliuc white blood cells). There is an increased malignancy risk, especially lymphoma and skin cancer. A condition called aganglionic megacolon (Hirschsprung disease) is also found in some patients.