The diagnosis and consequences of Stickler syndrome.
The objective was to study the expressivity of Stickler syndrome in affected children and adults in the UK and to highlight issues for improving early diagnosis, treatment and counselling. A postal questionnaire survey of the 216 members of the Stickler Syndrome Support Group was carried out. Of the 153 (71%) who responded to the questionnaire, 48 (61%) of adults and 15 (20%) of children had experienced retinal detachment; 36 (49%) of the children and 18 (23%) of the adults were born with a cleft palate. Only 5 (7%) of the children and none of the adults had been diagnosed by a cleft surgeon, although 23 (31%) of the children had been diagnosed originally as having Pierre-Robin sequence. Only a third of the adults had been given any genetic counselling. Stickler syndrome is an under-diagnosed condition with profound consequences, particularly with respect to vision. Earlier diagnosis by the cleft team may help to reduce suffering and increase awareness of the condition.
Webb
A C
AC
Department of Oral and Maxillofacial Surgery, Poole Hospital NHS Trust, Poole, Dorset, UK.
Markus
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AF
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D018771:Arthralgia / Q000175:diagnosis / Q000209:etiology; D002386:Cataract / Q000175:diagnosis / Q000209:etiology; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis / Q000209:etiology; D003095:Collagen Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005799:Genes, Dominant; D006311:Hearing Disorders / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology; D011795:Surveys and Questionnaires; D013577:Syndrome; D006113:United Kingdom