Anophthalmia plus syndrome

Anophthalmia plus syndrome (also known as anophthalmia-plus syndrome or Fryns anophthalmia syndrome) is an extremely rare congenital disorder characterized by bilateral anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes) in combination with additional malformations affecting multiple organ systems. The condition was first described by Fryns and colleagues and involves a variable combination of craniofacial, cardiovascular, musculoskeletal, and genitourinary anomalies. Key clinical features include anophthalmia or microphthalmia, cleft lip and/or cleft palate, facial dysmorphism, and various systemic malformations such as congenital heart defects, vertebral anomalies, and genital abnormalities. Some patients may also present with intellectual disability and central nervous system anomalies. The syndrome is present at birth, and the clinical presentation can vary considerably between affected individuals, even within the same family. The underlying genetic cause has not been fully elucidated in all reported cases, though some cases have been linked to mutations in the SMOC1 gene. Diagnosis is primarily clinical, based on the combination of ocular and extraocular findings. Management is multidisciplinary and supportive, involving ophthalmologic care (including prosthetic eye fitting and orbital management), surgical correction of cleft lip/palate and cardiac defects when present, and developmental support services. There is currently no cure or disease-specific therapy, and treatment focuses on addressing individual malformations and optimizing quality of life.

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