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Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management

Kathryn V Isaac1, Ingrid M Ganske1, Stephen A Rottgers1

  • 11 Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|February 14, 2018
PubMed

Insights

CHARGE syndrome is an under-recognized cause of cleft lip and palate (CL/P). Infants with CHARGE syndrome often experience feeding difficulties and hearing loss, requiring specialized care.

Area of Science:

  • Genetics
  • Pediatric Surgery
  • Craniofacial Anomalies

Background:

  • Syndromic cleft lip and/or cleft palate (CL/P) presents complex management challenges in infants.
  • CHARGE syndrome is a genetic disorder associated with various congenital anomalies.

Purpose of the Study:

  • Determine the prevalence of CL/P in patients diagnosed with CHARGE syndrome.
  • Identify factors influencing the management of CL/P in this specific pediatric population.

Main Methods:

  • Retrospective review of patients diagnosed clinically and genetically with CHARGE syndrome from 1998 to 2016.
  • Tabulation of clinical details including phenotypic anomalies, cleft types, surgical treatments, and outcomes.

Main Results:

  • 25% of 44 CHARGE syndrome patients had cleft lip and palate; 1 had cleft palate only.
  • Velopharyngeal insufficiency, feeding difficulties (requiring gastrostomy tubes), and neurosensory hearing loss were frequent.
  • Associated anomalies included semicircular canal, auricular, cardiovascular, choanal atresia, and tracheoesophageal fistula.

Conclusions:

  • CHARGE syndrome is an under-recognized genetic cause of CL/P.
  • Infants with CHARGE syndrome frequently experience hearing loss, speech, and feeding difficulties.
  • Delayed diagnosis can occur due to subtle phenotypic features.
Abstract

Keywords:
CHARGE syndromesyndromic cleft lip and palate

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