Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. However, none of these reports have described the orofacial aspects of this syndrome. Here we report one such case, which may provide valuable information to specialists in oral healthcare regarding the associated orofacial aspects. (J Oral Sci 53, 129-132, 2011)