The prevalence of<unk>  is scattered throughout the world, with cases recorded in France, Pakistan, Italy, Iraq, and multiple in Morocco. While it has appeared in a non-consanguineous family in one case, most cases present within consanguineous pedigrees which preserves the mutant allele that causes GOSHS. Every case of GOSHS is associated with a mutation in the same KIAA1279 gene.
Goldberg–Shprintzen syndrome
Schinzel–Giedion syndrome
Smith Martin Dodd syndrome
Shprintzen–Goldberg syndrome
Bardet–Biedl syndrome
Saethre–Chotzen syndrome
Pelger–Huët anomaly
Keppen–Lubinsky syndrome