Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

Epidemiology

Around ten cases have been reported so far.

Etiology

The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function.