CHARGE Syndrome: Difference between revisions
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== Diagnosis == | == Diagnosis == | ||
Diagnosis of | Diagnosis of CHARGE syndrome is usually determined during the prenatal or neonatal period through the identification of dysmorphic and congenital anomalies. <ref name=":1" /> | ||
Diagnostic criteria were initially developed by Blake et al.<ref name=":2" /> and further modified by Verloes, <ref name=":3">Verloes A. [https://pubmed.ncbi.nlm.nih.gov/15666308/ Updated diagnostic criteria for CHARGE syndrome: a proposal.] Am J Med Genet A. 2005 Mar 15;133A(3):306-8.</ref> 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. <ref name=":1" /> | Diagnostic criteria were initially developed by Blake et al.<ref name=":2" /> and further modified by Verloes, <ref name=":3">Verloes A. [https://pubmed.ncbi.nlm.nih.gov/15666308/ Updated diagnostic criteria for CHARGE syndrome: a proposal.] Am J Med Genet A. 2005 Mar 15;133A(3):306-8.</ref> 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. <ref name=":1" /> | ||
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== Management == | == Management == | ||
Management of | Management of CHARGE syndrome is complex and lifelong.<ref>Allen T. [https://pubmed.ncbi.nlm.nih.gov/23187639/ CHARGE syndrome: diagnosis and clinical management in the NICU.] Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4.</ref> Due to the broad phenotype that can be expressed, almost all organ and sensory system can be affected, resulting in a high and extremely variable comorbidity and severity. <ref>de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij‐Arts CM.[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765497/ Guidelines in CHARGE syndrome and the missing link: Cranial imaging.] Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 450–464. | ||
</ref> | </ref> | ||
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== Resources == | == Resources == | ||
[https://www.chargesyndrome.org/ The | [https://www.chargesyndrome.org/ The CHARGE Syndrome Foundation] | ||
Guidelines: [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765497/ Neuroradiological evaluation] | Guidelines: [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765497/ Neuroradiological evaluation] | ||
Revision as of 12:14, 7 May 2023
Introduction[edit | edit source]
CHARGE syndrome is an autosomal dominant genetic syndrome that presents with a nonrandom pattern of congenital anomalies attributed to 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] Its estimated prevalence is 1:10,000 and growing, so greater awareness of this condition is deemed necessary to improve survival and outcome. [4]
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]
Diagnostic criteria were initially developed by Blake et al.[4] and further modified by Verloes, [5] 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]
| Diagnostic criteria | Major | Minor | Occasional |
|---|---|---|---|
| Blake et al. [4]
Diagnostic criteria interpretation: Definite CHARGE: 4 major or 3 major and 3 minor criteria Probable/possible CHARGE: 1 or 2 major and several minor criteria |
4Cs:
Coloboma -of iris, retina, choroid, disc; microphthalmia; Choanal atresia; Cranial nerve (especially VII and VIII) dysfunction; Characteristic ear abnormalities |
Genital hypoplasia;
Developmental delay; Cardiovascular malformations; Growth deficiency; Orofacial cleft; Tracheoesophageal fistula; Characteristic face |
Renal anomalies;
Hand anomalies; Abdominal defects; Spine anomalies; Neck/shoulder anomalies; Thymic/parathyroid hypoplasia |
| Verloes [5]
Diagnostic criteria interpretation: Typical CHARGE: 3 major, or 2 major and 2 minor criteria Partial/incomplete CHARGE: 2 major and 1 minor criteria Atypical CHARGE: 2 major, or 1 major and 3 minor criteria |
3Cs:
Coloboma (iris or choroid, with or without microphthalmia); Choanal atresia; Hypoplastic semi-circular Canals |
Rhombencephalic dysfunction (brainstem dysfunctions, cranial nerve VII to XII palsies and neurosensory deafness);
Hypothalamo-hypophyseal dysfunction (including GH and gonadotrophin deficiencies; Abnormal middle or external ear; Malformation of mediastinal organs (heart, esophagus); Mental retardation |
Management[edit | edit source]
Management of CHARGE syndrome is complex and lifelong.[6] Due to the broad phenotype that can be expressed, almost all organ and sensory system can be affected, resulting in a high and extremely variable comorbidity and severity. [7]
Trider et al. [8] have produced a health supervision checklist for examination and management across the lifespan, you can find this here.
Resources[edit | edit source]
The CHARGE Syndrome Foundation
Guidelines: Neuroradiological evaluation
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.
- ↑ 4.0 4.1 4.2 Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998 Mar; 37(3):159-73.
- ↑ 5.0 5.1 Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005 Mar 15;133A(3):306-8.
- ↑ Allen T. CHARGE syndrome: diagnosis and clinical management in the NICU. Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4.
- ↑ de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij‐Arts CM.Guidelines in CHARGE syndrome and the missing link: Cranial imaging. Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 450–464.
- ↑ Trider C‐L, Arra‐Robar A, van Ravenswaaij‐Arts C, Blake K. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). Am J Med Genet A, 2017; 173A: 684–91.
