(Victor McKusick, 20th century, American genetist), a syndrome inherited as an autosomal recessive trait, also known as cartilage-hair hypoplasia. Very short stature, fine, light-coloured hair, small hands, bowed legs and joint laxity are characteristic. Patients may have deficiencies in the immune system that lead to infections and malignant tumours. On radiographs a slight degree of epiphyseal flattening with metaphyseal cupping and flaring may be seen. The hands and feet have small bones, and the carpal bones appear irregular. Vertebral bodies are also small.