Harrod Syndrome

This syndrome was first described by Harrod and collogues in 1977 (Harrod et al. 1977). Their report included two brothers with prominent facial dysmorphism, mental and growth retardation accompanied by arachnodactyly, hypospadias, and undescended testes. Both brothers also had aberrant subclavian arteries. The younger brother also suffered from malrotation of the small intestine, pyloric stenosis, and renal cortical microcysts. There is only one other documented case resembling this syndrome that is described in a 46-year-old man with similar craniofacial features (prominent anteverted ears, hypotelorism, pointed chin, and large deviated nose), mental retardation, and arachnodactyly. He had additional features including megacolon and varicose veins but had no abnormalities in the urogenital tract (Jurenka et al. 1996). Since there are only three documented cases available, the prevalence is estimated to be <1/1,000,000 (Peeters et al. 2013). The onset of the symptoms in all cases was from birth (Fig. 1).