Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011).

Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).