Biallelic mutations of FAT4 gene (FAT atypical cadherin) are associated with a rare autosomal recessive multiple malformation syndrome: the Van Maldergem syndrome (VMS), characterized by multiple bodily malformations (craniofacial, auditory, renal) and partially penetrant PH (Cappello et al., 2013). The gene discussed is CDH17; the disease is van Maldergem syndrome.