MedGen

Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). [from OMIM]

A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. [from SNOMEDCT_US]