A congenital syndrome characterized by slow or delayed growth, frontal bossing (unusually prominent forehead), MICROGNATHISM; failed tooth eruption, optic atrophy and severe hypotrichosis. It is caused by mutations in the anthrax toxin receptor 1 (ANTXR1) gene. OMIM: 230740
Also Known As:
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy; Gapo Syndrome; Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy; Odontotrichomelic Syndrome; Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities