In essence, prior to the coining of the ‘BRESEK or BRESHECK syndrome’ Martino et al. (1992) reported a male patient that was affected by the IFAP triad and additional symptoms that were very much alike to those of the BRESHECK syndrome, including short stature, intellectual disability, seizures, hypohidrosis, enamel dysplasia, congenital aganglionic megacolon, inguinal hernia, vertebral and renal anomalies, however the genetic basis underlying IFAP and the additional phenotypes of this patient was not determined [76]. The gene discussed is MBTPS2; the disease is hypohidrosis.