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Noonan syndrome: improving recognition and diagnosis

Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severity and can involve multiple organ systems over a patient’s lifetime. Diagnosis is based on a combination of features, including typical facial features, short stature,...

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Autores principales: Zenker, Martin, Edouard, Thomas, Blair, Joanne C, Cappa, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685729/
https://www.ncbi.nlm.nih.gov/pubmed/35246453
http://dx.doi.org/10.1136/archdischild-2021-322858
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author Zenker, Martin
Edouard, Thomas
Blair, Joanne C
Cappa, Marco
author_facet Zenker, Martin
Edouard, Thomas
Blair, Joanne C
Cappa, Marco
author_sort Zenker, Martin
collection PubMed
description Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severity and can involve multiple organ systems over a patient’s lifetime. Diagnosis is based on a combination of features, including typical facial features, short stature, skeletal abnormalities, presence of cardiac defects, mild developmental delay, cryptorchidism, lymphatic dysplasia and a family history of NS. The phenotype varies from oligosymptomatic adults without significant medical issues to severely affected neonates with life-threatening heart disease. Early, accurate diagnosis is important for individualised management and to optimise developmental and long-term outcomes, but mildly affected patients often go undiagnosed for both healthcare provider (HCP)-related and patient-related reasons. Lack of awareness of NS among HCPs means that some do not recognise the condition, particularly in mildly affected patients and families. Some families do not want to receive a diagnosis that medicalises a condition that may account for family traits (eg, distinctive facial features and short stature), particularly when a child’s physical and cognitive development may be satisfactory. As for any condition with lifelong effects on multiple organ systems, a multidisciplinary approach provides the best care. It is proposed that increasing awareness of NS among non-specialist HCPs and other professionals could help direct a parent/carer to seek specialist advice and increase the number of NS diagnoses, with the potential to optimise lifelong patient outcomes. Non-specialists do not need to become experts in either diagnosis or treatment; however, early recognition of NS and referral to an appropriate specialist is important.
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spelling pubmed-96857292022-11-25 Noonan syndrome: improving recognition and diagnosis Zenker, Martin Edouard, Thomas Blair, Joanne C Cappa, Marco Arch Dis Child Review Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. The phenotype varies in severity and can involve multiple organ systems over a patient’s lifetime. Diagnosis is based on a combination of features, including typical facial features, short stature, skeletal abnormalities, presence of cardiac defects, mild developmental delay, cryptorchidism, lymphatic dysplasia and a family history of NS. The phenotype varies from oligosymptomatic adults without significant medical issues to severely affected neonates with life-threatening heart disease. Early, accurate diagnosis is important for individualised management and to optimise developmental and long-term outcomes, but mildly affected patients often go undiagnosed for both healthcare provider (HCP)-related and patient-related reasons. Lack of awareness of NS among HCPs means that some do not recognise the condition, particularly in mildly affected patients and families. Some families do not want to receive a diagnosis that medicalises a condition that may account for family traits (eg, distinctive facial features and short stature), particularly when a child’s physical and cognitive development may be satisfactory. As for any condition with lifelong effects on multiple organ systems, a multidisciplinary approach provides the best care. It is proposed that increasing awareness of NS among non-specialist HCPs and other professionals could help direct a parent/carer to seek specialist advice and increase the number of NS diagnoses, with the potential to optimise lifelong patient outcomes. Non-specialists do not need to become experts in either diagnosis or treatment; however, early recognition of NS and referral to an appropriate specialist is important. BMJ Publishing Group 2022-12 2022-03-04 /pmc/articles/PMC9685729/ /pubmed/35246453 http://dx.doi.org/10.1136/archdischild-2021-322858 Text en © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Review
Zenker, Martin
Edouard, Thomas
Blair, Joanne C
Cappa, Marco
Noonan syndrome: improving recognition and diagnosis
title Noonan syndrome: improving recognition and diagnosis
title_full Noonan syndrome: improving recognition and diagnosis
title_fullStr Noonan syndrome: improving recognition and diagnosis
title_full_unstemmed Noonan syndrome: improving recognition and diagnosis
title_short Noonan syndrome: improving recognition and diagnosis
title_sort noonan syndrome: improving recognition and diagnosis
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685729/
https://www.ncbi.nlm.nih.gov/pubmed/35246453
http://dx.doi.org/10.1136/archdischild-2021-322858
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