title: The diagnosis and consequences of Stickler syndrome.
abstract: 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.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Poole Hospital NHS Trust, Poole, Dorset, UK.
authors.forename: A C
authors.initials: AC
authors.lastname: Webb
authors.forename: A F
authors.initials: AF
authors.lastname: Markus
mesh_terms: 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