CHARGE Syndrome
Original Editor - Angeliki Chorti, Angeliki Chorti
Introduction[edit | edit source]
CHARGE syndrome is a complex genetic syndrome, that presents with a wide range of congenital anomalies affected by mutations in the CHD7 gene.[1] The CHD7 (chromodomain helicase DNA binding protein) gene present on 8q12 and involved in the aetiology of this syndrome is responsible for several structural and physiological processes leading to abnormalities. [2] Differences in clinical presentation are the result of unique mutations scattered throughout the gene in the majority of cases. [2]
CHARGE syndrome was initially called Hall-Hittner syndrome since Hall and Hittner were the first to identify it. [3]
Clinical features[edit | edit source]
Cardinal anomalies related to CHARGE syndrome were first described by Pagon: [3]
- eye coloboma
- choanal atresia
- heart defects
- genital hypoplasia
- retarded growth and development
- behavioural problems and autistic-like behaviour
- ear malformation and deafness.
A consistent reported feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. [2]
Other commonly associated congenital anomalies are: [2]
- facial nerve palsy
- cleft lip/palate
- tracheo-oesophageal fistula.
Diagnosis[edit | edit source]
Diagnosis of Charge syndrome is usually determined during the prenatal or neonatal period through the identification of dysmorphic and congenital anomalies. [3]
The criteria for diagnosis are those by Blake et al. and further modified by Verloes, who highlighted the importance of the 3C triad (coloboma, choanal atresia, abnormal semicircular canals). Other criteria include orofacial cleft, distinctive facial appearance, tracheoesophageal fistula, limb abnormalities, and rarely, immune deficiencies. [3]
Management[edit | edit source]
Management of Charge syndrome is complex and lifelong.[4]
Resources[edit | edit source]
The Charge Syndrome Foundation
References[edit | edit source]
- ↑ Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. CHARGE syndrome: a review. J Paediatr Child Health. 2014 Jul;50(7):504-11.
- ↑ 2.0 2.1 2.2 2.3 Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006 Apr;43(4):306-14.
- ↑ 3.0 3.1 3.2 3.3 Usman N, Sur M. CHARGE Syndrome. 2023 Mar 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan.
- ↑ Allen T. CHARGE syndrome: diagnosis and clinical management in the NICU. Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4.
