Short stature with nonspecific skeletal abnormalities

Short stature with nonspecific skeletal abnormalities-1 (SNSK1) is an autosomal dominant disorder characterized by height that is significantly shorter than that of noncarrier family members. Increased arm span to height, increased sitting height to total height, delayed bone age, and metacarpal shortening have been observed (Olney et al., 2006; Vasques et al., 2013). Biallelic mutation in the NPR2 gene causes acromesomelic dysplasia-1, Maroteaux type (AMD1; 602875). Genetic Heterogeneity of Short Stature with Nonspecific Skeletal Abnormalities SNSK2 (BDA1; 112500) is caused by heterozygous mutation in the IHH gene (600726) on chromosome 2q35. [from OMIM]