• Suspected to be affected with stickler syndrome type 1
  • Majid Hosseinzadeh,1 Fatemeh Abolhasani,2,* Hossein Abdali,3 Mohammad Kazemi,4
    1. Department of Genetics, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
    2. Department of Genetics, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
    3. Craniofacial & cleft research center, Isfahan University of Medical Sciences, Isfahan, Iran
    4. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran


  • Introduction: Stickler syndrome, or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant connective tissue disorder that can affect the eyes and the joints. The prevalence and incidence of this syndrome are 1 to 3 per 10,000 and 1 per 7,500-9,000 births, respectively. Has known in six different types according to their genetic origin, the most common of which is type 1, which accounts for approximately 80 to 90 % of cases. This syndrome is caused by a mutation in the COL2A1 gene located on chromosome 12q13.11. This study was conducted with the aim of determining the clinical manifestations of patients suspected with stickler syndrome type 1 in Iran.
  • Methods: This cross-sectional, descriptive-analytical study was carried out on patients referring to a cranial deformity clinic in Isfahan, Iran. The medical records of all eligible patients admitted between 2009 and 2022 (over 6000 individuals) were assessed. Totally, 24 patients suspected with stickler type 1 were identified and their clinical manifestations were examined. Then, the data were analyzed in SPSS v.26 using descriptive tests (independent sample T-test and chi-squared test) at the significance level of0.05.
  • Results: The mean age of patients was estimated to be 12.8 ± 6.2. Notably, the common complications in the patients included: cleft palate (orofacial abnormality; 95.8%), ocular abnormalities (79.2%), hearing abnormalities (54.2%), cleft lip (orofacial abnormality; 45.8%), heart abnormality (29.2% ), abnormality of muscle tone (25%), and nasal regurgitation (25%). There was no significant relationship between age and clinical manifestations (p-value > 0.05). However, a significant relationship was observed between gender and cleft palate (p-value < 0.05), such that 82.6% of men and 17.4% of women have had these condition.
  • Conclusion: According to the findings, most of the patients had cleft palate abnormalities, and fewer showed abnormalities of muscle tone and nasal regurgitation. There are mixed reports concerning the prevalence rate of abnormalities associated with stickler syndrome. It is also recommended that researchers in other countries evaluate the frequency (percentage) of clinical manifestations of patients with stickler syndrome type 1.
  • Keywords: stickler syndrome type 1, clinical manifestations, cleft palate