Cartilage Hair Hypoplasia - In a study of 147 patients with CHH, 13 patients (9%) suffered from Hirschsprung disease. One-half of these patients had disease complicated by episodes of enterocolitis. Other features of CHH include short stature, fine thin hair, immunodeficiency, and autoimmunity (hemolytic anemia, ITP, juvenile idiopathic arthritis, autoimmune enteropathy).
A wide spectrum of immunodeficiency has been described in CHH. Absolute lymphocyte counts are generally low with T cell lymphopenia and decreased T cell proliferation to mitogens. Hypogammaglobulemia has also been reported in patients. Profound anemia and neutropenia from bone marrow failure can occur. In some patients, a SCID phenotype can occur with severe lymphopenia and marked T cell and B cell dysfunction. An Omenn syndrome phenotype has also been reported.