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Updated: Jul 22, 2026
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
A Retrospective and Prospective Cohort Study Comparing Pediatric Patients With Cleft Lip and Palate From the United
Elizabeth B Card1, Carrie E Morales1, Rotem Kimia2
1Division of Plastic Surgery, University of Pennsylvania Health System, Philadelphia, PA.
Insights
Orofacial clefts (OFC) are common congenital abnormalities. Guatemalan infants show more severe OFC phenotypes and delayed treatment compared to US infants, highlighting potential environmental and dietary risk factors.
Area of Science:
- Pediatric Surgery
- Congenital Abnormalities
- Global Health
Background:
- Orofacial clefts (OFC) are prevalent global congenital anomalies.
- Significant disparities in OFC prevalence and severity exist between the US and Guatemala.
- Limited access to care in Guatemala may influence outcomes.
Purpose of the Study:
- To compare the phenotype and treatment of orofacial clefts (OFC) between infants in the US and Guatemala.
- To identify potential risk factors for OFC in the Guatemalan population.
- To inform strategies for improved OFC care globally.
Main Methods:
- Retrospective chart review of 514 US OFC patients (2012-2019).
- Retrospective review of 115 Guatemalan OFC patients (2017-2020) with prospective risk factor data collection.
- Comparison of demographic data, cleft severity scores, and age at primary repair.
Main Results:
- Guatemalan infants exhibited a more severe OFC phenotype, including higher rates of complete cleft lip, associated cleft palate, and bilateral/right-sided clefts.
- The Guatemalan cohort had a lower prevalence of cleft palate only, possibly due to increased severity or mortality.
- Delayed surgical repair in Guatemalan patients increases risks for long-term complications.
Conclusions:
- Guatemalan infants present with more severe orofacial clefts (OFC) and face delayed treatment compared to US infants.
- Potential risk factors in Guatemala include environmental exposures, poor nutrition, and poverty.
- Enhanced screening and investigation into risk factors are crucial for improving care for OFC patients, especially those reliant on surgical missions.
Abstract:
Orofacial clefts (OFC) remain among the most prevalent congenital abnormalities worldwide. In the United States in 2010 to 2014, 16.2 of 10,000 live births are born with OFC compared with 23.6 of 10,000 in Alta Verapaz, Guatemala in 2012. Demographics and cleft severity scores were retrospectively gathered from 514 patients with isolated OFC at the Children's Hospital of Philadelphia scheduled for surgery from 2012 to 2019 and from 115 patients seen during surgical mission trips to Guatemala City from 2017 to 2020. Risk factors were also gathered prospectively from Guatemalan families. The Guatemalan cohort had a significantly lower prevalence of cleft palate only compared with the US cohort, which may be a result of greater cleft severity in the population or poor screening and subsequent increased mortality of untreated cleft palate. Of those with lip involvement, Guatemalan patients were significantly more likely to have complete cleft lip, associated cleft palate, and right-sided and bilateral clefts, demonstrating an increased severity of Guatemalan cleft phenotype. Primary palate and lip repair for the Guatemalan cohort occurred at a significantly older age than that of the US cohort, placing Guatemalan patients at increased risk for long-term complications such as communication difficulties. Potential OFC risk factors identified in the Guatemalan cohort included maternal cooking-fire and agricultural chemical exposure, poor prenatal vitamin intake, poverty, and risk factors related to primarily corn-based diets. OFC patients who primarily rely on surgical missions for cleft care would likely benefit from more comprehensive screening and investigation into risk factors for more severe OFC phenotypes.
