The diagnosis and consequences of Stickler syndrome

• Published in: British journal of oral & maxillofacial surgery 2002-02, Vol.40 (1), p.49-51
• Main Authors: Webb, A.C., Markus, A.F.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult; Arthralgia - diagnosis; Arthralgia - etiology; Biological and medical sciences; Cataract - diagnosis; Cataract - etiology; Child; Cleft Palate - diagnosis; Cleft Palate - etiology; Collagen Diseases - complications; Collagen Diseases - diagnosis; Collagen Diseases - genetics; Dentistry; Genes, Dominant; Hearing Disorders - diagnosis; Hearing Disorders - etiology; Humans; Medical sciences; Retinal Detachment - diagnosis; Retinal Detachment - etiology; Surveys and Questionnaires; Syndrome; United Kingdom
• ISSN: 0266-4356; 1532-1940
• DOI: 10.1054/bjom.2001.0747

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.