Cleft lip and palate in CHARGE syndrome: Phenotypic features that influence management

Kathryn V. Isaac, Ingrid M. Ganske, Stephen A. Rottgers, So Young Lim, John B. Mulliken

Research output: Contribution to journalArticlepeer-review


Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. Design: This is a retrospective review from 1998 to 2016. Patients: Patients with CHARGE syndrome were diagnosed clinically and genetically. Main Outcomes Measures: Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. Results: CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). Conclusions: CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

Original languageEnglish (US)
Pages (from-to)342-347
Number of pages6
JournalCleft Palate-Craniofacial Journal
Issue number3
StatePublished - Mar 2018
Externally publishedYes


  • CHARGE syndrome
  • Syndromic cleft lip and palate

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology


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