22q11 chromosome abnormalities and the cleft service☆

Summary 

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.

Keywords: 22q11 deletion syndrome, Velocardiofacial syndrome, DiGeorge syndrome, Cleft palate, Submucous cleft, Velophayngeal insuffiency