Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation.
