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ISSN: 2353-6942
Health Problems of Civilization Physical activity: diseases and issues recognized by the WHO
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abstract:
Review paper

UNDERSTANDING ABLEPHARON-MACROSTOMIA SYNDROME: FROM GENETICS TO MULTIDISCIPLINARY CARE

Olgierd Dróżdż
1
,
Bartosz Wilczyński
2
,
Joanna Bober
1
,
Julia Szymonik
1
,
Marcin Dołęga
1
,
Piotr Gacka
1
,
Michalina Grzelka
3

  1. Department of Diabetology and Internal Diseases, Jan Mikulicz-Radecki University Hospital in Wroclaw, Poland
  2. Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
  3. 4th Military Clinical Hospital in Wroclaw, Poland
Health Prob Civil.
DOI: https://doi.org/10.5114/hpc.2024.142411
Online publish date: 2024/09/05
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Ablepharon-Macrostomia Syndrome (AMS) is an exceedingly rare congenital disorder characterized by absence of eyelids (ablepharon) and enlargement of the mouth (macrostomia). Despite its rarity, understanding AMS is crucial for clinicians to provide comprehensive care. This review compiles current knowledge on AMS, emphasizing its genetic underpinnings and diverse clinical manifestations affecting various body systems. The syndrome is predominantly associated with mutations in the TWIST2 gene, affecting embryonic mesenchymal cell development. Clinical symptoms encompass facial dysmorphia, ocular abnormalities, skin issues, and genitourinary anomalies. Diagnosis relies on clinical phenotype evaluation and genetic testing, often necessitating a multidisciplinary approach for optimal management. Surgical interventions, particularly for ocular and craniofacial anomalies, alongside symptomatic treatment, are pivotal in enhancing patients' quality of life. Psychological and social support are integral components of care, fostering patient well-being and adaptation. Despite challenges, prognosis varies, with early diagnosis and holistic care potentially improving outcomes. This review underscores the importance of raising awareness among clinicians to facilitate early recognition and comprehensive management of this rare syndrome, ultimately promoting the well-being of affected individuals and families.
keywords:

Ablepharon-Macrostomia Syndrome, TWIST2, macrostomia, eye abnormalities, rare diseases

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