Epidemiology of Robin sequence in the United Kingdom and Ireland: findings of a national surveillance study

Abstract

Introduction: Birth prevalence of Robin sequence (RS) has been reported as 1 case per 8000–14000 live births by epidemiological studies from other European countries. As no mandatory craniofacial anomaly registry exists in the United Kingdom and Ireland (UK/I), birth prevalence of RS is not known. We report findings from the first national study of RS epidemiology and management in the UK/I.

Methods: A surveillance study was conducted throughout UK/I (Jan 2016-Jan 2017) utilising a monthly reporting card distributed to 3500 paediatricians/neonatologists and all regional cleft teams. For each reported live-born infant with RS, clinical data were prospectively collected from clinicians at the time of reporting with follow-up at median 2 years of age. Completion rate of the follow-up survey was 95%.

Results: 163 infants with RS (52% female, 83% Caucasian, 87% term births) were born in UK/I in 2016, giving a birth prevalence of 1:5100 live births. Prevalence varied from 1:2500 to 1:6000 across the 5 countries of UK/I. 52% had isolated RS. 29% had a confirmed syndrome, the most common of which was Stickler syndrome (SS; n=17, 10% of all RS cases), and 12% had a chromosomal abnormality with known RS association. 9% (n=15) had a family history of orofacial cleft, of which 53% had SS and 33% had isolated RS.

Conclusion: This prospective study utilising a dual reporting source identified a higher birth prevalence of RS in UK/I than reported by studies from other countries with comparable diagnostic criteria. Further studies are required to investigate whether this finding is attributable to different profiles of genetic or environmental risk factors within these populations.