Multiple Synostoses Syndrome 1 (SYNS1)

Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction and multiple synostoses syndrome 2, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin). Affiliated tissues include bone and skin, and related phenotypes are thin upper lip vermilion and hypermetropia