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Published on: February 21, 2015
22q11 chromosome abnormalities and the cleft service
N Nugent1, A McGillivary, M J Earley
1Department of Plastic Surgery, Children's University Hospital, Temple Street, Dublin 1, Ireland. noranugent@gmail.com
Insights
Children with 22q11 deletion syndrome often have cleft palate and velopharyngeal issues. Early diagnosis of this genetic condition is crucial for comprehensive, multidisciplinary care.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- 22q11 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a range of anomalies.
- Cleft palate and velopharyngeal incompetence are common manifestations in affected individuals.
- Patients with this syndrome represent a significant subgroup within cleft care services.
Purpose of the Study:
- To analyze the characteristics and management of patients with 22q11 deletion syndrome presenting with cleft palate.
- To highlight the frequent comorbidities and multidisciplinary needs of these patients.
- To emphasize the importance of early diagnosis for effective intervention.
Main Methods:
- Retrospective review of 16 patients diagnosed with 22q11 deletion over a ten-year period.
- Analysis of patient records for cleft palate, velopharyngeal function, surgical interventions, comorbidities, and developmental outcomes.
- Chromosome analysis for diagnosis of 22q11 deletion.
Main Results:
- All 16 patients had cleft palate and/or velopharyngeal incompetence, requiring primary and sometimes secondary palate surgery.
- Speech quality was the primary indication for secondary palate surgeries in most cases.
- 14 patients had significant comorbidities (e.g., congenital heart disease, ocular abnormalities), and 15 had developmental delays or learning difficulties.
Conclusions:
- 22q11 deletion syndrome is a significant diagnosis in cleft services, requiring extensive multidisciplinary input.
- Early recognition and diagnosis facilitate more efficient management and intervention for these complex patients.
- Comprehensive care involving genetics, cardiology, ENT, and ophthalmology is essential.
Abstract:
Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate. These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with this chromosomal abnormality account for a small, but noteworthy proportion of patients attending our cleft service. They frequently have other significant comorbidities consistent with their diagnosis. Over a ten-year period, 16 patients within our cleft service have been diagnosed, using chromosome analysis, as having deletions at 22q11. All had either a cleft palate and/or velopharyngeal incompetence, for which they underwent repair of the cleft palate or pharyngoplasty. Several have required secondary palate surgery following initial palate surgery. Poor quality of speech was the indication for secondary procedures in the majority of cases. Fourteen of the 16 have other comorbidities, ranging from congenital heart disease to ocular abnormalities. In addition, 15 of the 16 have developmental delays and/or learning difficulties. Other specialties, such as ENT, cardiology, genetics and ophthalmology have been involved in the care of all these patients. Although comprising only a small proportion of patients attending a cleft team, the diagnosis of this chromosomal abnormality is significant, as these patients may require substantial input of resources and the expertise of several specialties. Early recognition of features of this entity and diagnosis can aid more efficient intervention.
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