WES analysis revealed a homozygous pathogenic variant in MAN2B1 gene in affected individuals of both families, however, we could not find symptoms of α-mannosidosis in family B. Interestingly, the genetic analysis of family B that was initially recruited for club foot and glaucoma, also revealed that members of family B have a rare genetic disorder Frank-Ter Haar syndrome (FTHS) that is inherited in an autosomal recessive feashion andis hallmarked by the presence of deformities of skeletal, craniofacial and cardiovascular systems. The gene discussed is MAN2B1; the disease is Frank-Ter Haar syndrome.