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Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.
- Source :
-
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2017 Dec; Vol. 175 (4), pp. 496-506. Date of Electronic Publication: 2017 Oct 30. - Publication Year :
- 2017
-
Abstract
- CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysfunction, which carries great morbidity and mortality. The aim of this review is to examine the nature of gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome, focusing on their underlying pathology, associated investigations, and available treatment options. We also provide information on available tools (for parents, clinicians, and researchers) that are important additions to the lifelong healthcare management of every individual with CHARGE syndrome. We review how cranial nerve dysfunction is one of the most important characteristics underlying the pervasive GI and feeding dysfunction, and discuss the need for future research on gut innervation and motility in this genetic disorder.<br /> (© 2017 Wiley Periodicals, Inc.)
- Subjects :
- Abnormalities, Multiple genetics
Abnormalities, Multiple physiopathology
Animals
CHARGE Syndrome therapy
Cranial Nerve Diseases genetics
Cranial Nerve Diseases physiopathology
Female
Gastrointestinal Motility genetics
CHARGE Syndrome diagnosis
CHARGE Syndrome etiology
Feeding and Eating Disorders etiology
Gastrointestinal Tract abnormalities
Gastrointestinal Tract physiopathology
Phenotype
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4876
- Volume :
- 175
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part C, Seminars in medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 29082627
- Full Text :
- https://doi.org/10.1002/ajmg.c.31586