What does Cartilage hair hypoplasia syndrome mean?

Cartilage hair hypoplasia syndrome meaning in Medical Dictionary

A specific genetic as a type of short-limbed dwarfism with skeletal functions that also consist of typical mind, inability to completely expands the arms, chest cage deformity, bow legs (genu varum), as well as the tibia smaller than the fibula. The fingers are loose-jointed plus the nails foreshortened. Biopsy shows hypoplasia (underdevelopment) of cartilage is the type of this skeletal abnormality. Hair is unusually good, sparse and light-colored. Microscopically, it offers an abnormally small-caliber. Many patients with cartilage hair hypoplasia have actually an important immunologic defect this is certainly manifested, including, as an unusual susceptibility to chickenpox. Along with lymphopenia (decreased lymphocytes), some clients have actually anemia and neutropenia (decreased neutrophiliuc white-blood cells). There is an elevated malignancy threat, specially lymphoma and cancer of the skin. A disorder called aganglionic megacolon (Hirschsprung disease) is also present in some customers.