Wu et al. (2009) described 12 affected individuals from a 5-generation Chinese family segregating autosomal dominant multiple synostoses syndrome, with fusions of proximal interphalangeal, carpal-tarsal, and humeroradial joints. Hearing, stature, and intelligence were normal in all affected individuals. ... Wu et al. (2009) described 12 affected individuals from a 5-generation Chinese family segregating autosomal dominant multiple synostoses syndrome, with fusions of proximal interphalangeal, carpal-tarsal, and humeroradial joints. Hearing, stature, and intelligence were normal in all affected individuals. Only mild semidislocation or cubital valgus at elbow joints or limitation of finger joint flexion was found in 4 patients aged 11 years or below, suggesting that the phenotype is age dependent.
In a 5-generation Chinese family with autosomal dominant multiple synostoses syndrome mapping to chromosome 13q11-q12, Wu et al. (2009) identified a heterozygous missense mutation in the candidate FGF9 gene (600921.0001) that segregated with disease and was not found ... In a 5-generation Chinese family with autosomal dominant multiple synostoses syndrome mapping to chromosome 13q11-q12, Wu et al. (2009) identified a heterozygous missense mutation in the candidate FGF9 gene (600921.0001) that segregated with disease and was not found in 250 unrelated ethnically matched controls.