en Biochemistry and Nutrition Biochemistry and Nutrition case report case report <p>  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as cartilage hair hypoplasia, with severe short stature, metaphyseal chondrodysplasia, hair hypoplasia, Hirschsprung disease, hypothyroidism, vesicouretral reflux and renal stone. Renal stone and hypothyroidism have been reported in cartilage hair hypoplasia with lower frequencies. This is the first report of cartilage hair hypoplasia in Iran. </p> Cartilage hair hypoplasia, Short stature, Metaphyseal chondrodysplasia, Hirschsprung disease. 157 160 http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-589&slc_lang=en&sid=1 Kobra Shiasi Arani kobra.shiasi@yahoo.com 20031947532846008372 20031947532846008372 Yes Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, Iran.