Management

AMOTL1-related disease affects multiple organ systems. We recommend 1) Evaluation by otolaryngology for evidence of orofacial clefting and velopharyngeal insufficiency, 2) Baseline and annual ophthalmology evaluation for myopia, 3) Regular Audiology examination to screen for hearing loss, 4) Echocardiogram to screen for congenital heart disease, 5) Screening and aggressive treatment of constipation, 6) Baseline and annual evaluation of liver function, 7) Scoliosis evaluation and 8) Developmental assessment