Johanson-Blizzard syndrome is named after the authors who described the first known case of this disease, in two unrelated girls presenting with malabsorption caused by pancreatic insufficiency, growth retardation, intellectual disability, hypoplasia of the nasal alae, hypothyroidism, hearing loss, absent permanent teeth and scalp defects (Park et al. 1972; Johanson and Blizzard 1971). Cases described later, added imperforate anus, other forms of endocrine abnormalities, heart defects, liver dysfunction, and craniofacial, lacrimal ducts and urogenital anomalies to the vignette (Al-Dosari et al. 2008; Gershoni-Baruch et al. 1990; Hurst and Baraitser 1989; Almashraki et al. 2011).