How the Diagnosis is Made

In infancy, diagnosis of Cartilage Hair Hypoplasia is difficult; not until 9 to 12 months of age do the abnormalities become apparent. Radiographic examination provides the greatest insight. Widened metaphyses, short long bones, elongated fibulae, and anterior angulation of the sternum are all indicative of Cartilage Hair Hypoplasia. Hair hypoplasia is only a positive criterion; the absence of hair hypoplasia does not warrant the exclusion of Cartilage Hair Hypoplasia as a possible diagnosis.