Cartilage Hair Hypoplasia: First report from Iran

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.