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Published on: September 19, 2015
A novel tool to identify covert syndromes in children with cleft lips and palate
S Tunon de Lara1, L Harper2, M Loot2
1Department of Paediatric Surgery, Hôpital Pellegrin-Enfants, CHU Bordeaux, Bordeaux, France; University of Bordeaux, France.
Insights
This study developed a simple tool to help clinicians identify covert syndromes in children with cleft lip (CL) and cleft palate (CP). The charts aid in diagnosing syndromic CL/CP by considering various clinical signs.
Area of Science:
- Pediatric Surgery
- Genetics
- Craniofacial Anomalies
Background:
- Cleft lip (CL) and cleft palate (CP) are congenital craniofacial anomalies resulting from incomplete embryonic fusion.
- Syndromic CL/CP are diagnosed when associated with other congenital malformations.
Purpose of the Study:
- To create a concise, user-friendly tool for clinicians to identify covert syndromes in children with clefts.
- The tool considers clinical, preclinical, and infraclinical signs and symptoms.
Main Methods:
- Utilized the Human Phenotype Ontology database (ORPHANET, OMIM, DECIPHER) for phenotypical abnormality classification and syndrome frequency.
- Reviewed recent literature, expert consensus, and focused on PubMed for data retrieval.
Main Results:
- Developed four double-entry charts (concise and exhaustive versions for CP alone and for CL/CP).
- The created tool is accessible for practitioners managing patients with clefts.
Conclusions:
- The tool facilitates easy identification of potential syndromes in suspected cases of associated anomalies.
- Provides a foundation for future research on syndromic CL/CP and can be applied to other pediatric surgical conditions.
Background:
Cleft lip (CL) and cleft palate (CP) are congenital craniofacial anomalies characterized by incomplete fusion of the lip and/or the roof of the mouth during embryonic development. CL/CP are considered syndromic if they are associated with at least 1 another congenital malformation.
Objective:
The main goal of our study was to create a concise, simple tool for clinicians to help them identify, in children with clefts, covert syndromes, taking into consideration clinical, preclinical, and infraclinical signs and symptoms.
Methods:
We used the Human Phenotype Ontology website database, which uses ORPHANET, OMIM, and DECIPHER to classify phenotypical abnormalities and gives the frequency for each syndrome. Data about each syndrome was retrieved from the literature. We used PubMed and focused on the most recent articles, reviews of the literature, and consensus of experts.
Results:
We created 4 double entry charts: a concise version and an exhaustive version both for CP alone and for CL and CLP. Our tool is accessible to all practitioners who will be called upon to manage these patients.
Conclusion:
Our tool allows for easy identification of possible syndromes in case of suspected associated anomalies and provides a solid basis for future studies of syndromic CL and/or CP. Our methodology could be applied to other pathologies or anomalies within the scope of pediatric surgery.
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