Ophthalmo-Acromelic Syndrome

Ophthalmo-Acromelic Syndrome

Ophthalmo-acromelic syndrome is a rare genetic disorder characterised by eye abnormalities, limb malformations, and other systemic issues. Symptoms typically include microphthalmia, anophthalmia, and limb reduction defects. This syndrome often results from mutations in the SMOC1 gene. Early diagnosis and multidisciplinary management are essential for individuals affected by ophthalmo-acromelic syndrome.