This syndrome is caused by mutations in the establishment of cohesion 1 homolog 2 (ESCO2) gene. This gene is located on the short arm of chromosome 8 (8p21.1). Mutations in this gene also cause Roberts/SC phocomelia syndrome.<unk>  is inherited in both an autosomal recessive and autosomal dominant fashion.
Juberg-Hayward syndrome
Favre–Racouchot syndrome
Gougerot–Blum syndrome
McGillivray syndrome
Larsen syndrome
Jeavons syndrome
Bowen–Conradi syndrome
Kearns–Sayre syndrome