# Adams–Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations

## TL;DR

This review summarizes the clinical, genetic, and nursing care aspects of Adams–Oliver syndrome, a rare congenital disorder with complex management needs.

## Contribution

The paper provides a comprehensive synthesis of clinical, genetic, molecular, and nursing care aspects of Adams–Oliver syndrome.

## Key findings

- AOS is genetically heterogeneous, involving mutations in six key genes affecting vascular development.
- Clinical features include aplasia cutis congenita and limb defects, with variable severity.
- Nutritional issues like poor feeding are common but often overlooked in AOS management.

## Abstract

The present review aims to provide a comprehensive overview of the current literature on Adams–Oliver syndrome (AOS), synthesizing information on its clinical features, genetic and molecular underpinnings, nutritional aspects, and key nursing care considerations. AOS is a rare congenital disorder. Its genetic basis is heterogeneous, involving mutations in at least six key genes (ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT), which primarily affect vascular development through pathways like Notch signaling and Rho GTPase regulation. The management of AOS is complex and requires a multidisciplinary approach. The clinical presentation of AOS is highly variable, ranging from mild to severe and includes a wide spectrum of clinical manifestations, most notably aplasia cutis congenita and terminal transverse limb defects. The underlying molecular mechanisms predominantly point towards vasculopathy, disrupting embryonic development. Emerging evidence also highlights the presence of nutritional issues, such as poor feeding and growth failure, which are often overlooked. Management demands an integrated, multidisciplinary management approach, requiring coordinated effort from specialists in pediatrics, genetics, molecular biology, cardiology, surgery, and nutrition. Specialized nursing care is crucial for managing complex symptoms, particularly wound care for aplasia cutis, and for providing family support.