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

Sep 30, 2026

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The present review provides a comprehensive overview of current literature on Adams–Oliver syndrome (AOS), integrating clinical presentation, genetic and molecular mechanisms, nutritional factors, and nursing care considerations. AOS is a rare congenital disorder with heterogeneous genetic causes involving ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT, primarily affecting vascular development via Notch signaling and Rho GTPase regulation. Clinical findings range from mild to severe, including aplasia cutis congenita and terminal transverse limb defects, alongside frequently overlooked feeding problems and growth failure. Management requires coordinated, multidisciplinary care and specialized wound care plus family support.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages24

Reading Time1 h 0 min

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Introduction

Methods

Review Adams–Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations Ioana Badiu Tis, a 1, Anamaria Cozma-Petru 2, *, Alin-Dan Chiorean 3, Doina Miere 2, Lorena Filip 2,4, Roxana Banc 2, Oana Mîrza 2 and Mădălina Adriana Bordea 5 Academic Editors: Yujing Li and Yulin Jin Received: 10 November 2025 Revised: 8 December 2025 Accepted: 20 December 2025 Published: 23 December 2025 Copyright: © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. 1 Department 1, Faculty of Nursing and Health Sciences,“Iuliu Haieganu” University of Medicine and Pharmacy, 2-4 Câmpeni Street, 400217 Cluj-Napoca, Romania; [ioana.badiu@umfcluj.ro](ioana.badiu@umfcluj.ro) 2 Department of Bromatology, Hygiene, Nutrition, Faculty of Pharmacy,“Iuliu Haieganu” University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania; [dmiere@umfcluj.ro](dmiere@umfcluj.ro) (D.M.); lfilip@umfcluj.ro (L.F.); roxana.banc@umfcluj.ro (R.B.); oana.stanciu@umfcluj.ro (O.M.) 3 Department of Cell and Molecular Biology, Faculty of Medicine,“Iuliu Haieganu” University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania; [chiorean.alin@umfcluj.ro](chiorean.alin@umfcluj.ro) 4 Academy of Romanian Scientists (AOSR), 3 Ilfov Street, 050044 Bucharest, Romania 5 Department of Microbiology, Faculty of Medicine,“Iuliu Haieganu” University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania; [madalina.bordea@umfcluj.ro](madalina.bordea@umfcluj.ro) * Correspondence: [anamaria.cozma@umfcluj.ro](anamaria.cozma@umfcluj.ro) 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. Keywords: Adams–Oliver syndrome; genetics; molecular mechanisms; limb anomalies; skin defects; heart defects; brain anomalies; nutritional issues; nursing care 1. Introduction Adams–Oliver syndrome (AOS) was initially described by Forrest Adams and Clarence Oliver in 1945 [1,2], and since then, several similar cases have been reported worldwide [3–6] . The prevalence is unknown, but it is estimated to affect approximately 1 in 225,000 live births [7] . AOS has been reported in populations worldwide, but the current body of literature suggests no clear racial or ethnic predilection. While case reports originate from numerous countries, a lack of systematic reporting of ethnicity prevents a quantitative analysis of its distribution among different ethnic grou

FAQs

What is Adams–Oliver syndrome and how variable is its clinical presentation?

Adams–Oliver syndrome (AOS) is a rare congenital disorder. Its clinical spectrum ranges from mild to severe, with a wide range of manifestations, most notably aplasia cutis congenita and terminal transverse limb defects.

Which genes and molecular pathways are associated with AOS?

The genetic basis is heterogeneous and involves mutations in ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT. These primarily affect vascular development through pathways such as Notch signaling and Rho GTPase regulation.

What nutritional and nursing care needs are emphasized in the review?

The review highlights nutritional issues such as poor feeding and growth failure, which are often overlooked. Specialized nursing care is crucial, particularly wound care for aplasia cutis, and coordinated family support within multidisciplinary management.

Sep 30, 2026

Uploaded by Fahsai