Related Experiment Video
Updated: Aug 28, 2025
09:44
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
19.3K
Hearing Loss in Stickler Syndrome: An Update.
Frederic R E Acke1, Els M R De Leenheer1
1Department of Otorhinolaryngology, Ghent University Hospital, B-9000 Ghent, Belgium.
Genes
|September 23, 2022
Summary
Stickler syndrome, a connective tissue disorder, often causes hearing loss and visual impairment. Early detection and treatment of hearing loss are crucial, especially given the genetic variations influencing its severity.
Area of Science:
- Genetics
- Ophthalmology
- Otolaryngology
Background:
- Stickler syndrome is a genetic connective tissue disorder with diverse clinical presentations.
- Key features include ocular, skeletal, orofacial, and auditory manifestations.
- Significant phenotypic variability is linked to genetic heterogeneity.
Purpose of the Study:
- To summarize the clinical manifestations of Stickler syndrome.
- To highlight the genetic basis and its influence on phenotypic variability.
- To emphasize the prevalence and management of hearing loss in Stickler syndrome.
Main Methods:
- Review of genetic and clinical literature on Stickler syndrome.
- Analysis of genotype-phenotype correlations, particularly regarding hearing loss.
- Synthesis of information on ocular, skeletal, orofacial, and auditory symptoms.
Main Results:
- Stickler syndrome involves high myopia, retinal detachment, joint hypermobility, osteoarthritis, cleft palate, midfacial hypoplasia, micrognathia, and hearing loss.
- Genetic heterogeneity involves collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) and non-collagen genes (BMP4, LRP2, LOXL3).
- Hearing loss severity and type (sensorineural, conductive) vary significantly with the underlying gene mutation.
Conclusions:
- Hearing loss is a common and significant manifestation of Stickler syndrome, influenced by genetic factors.
- Orofacial features can lead to middle ear issues and conductive hearing loss, particularly in children.
- Active audiological assessment and management are essential for patients with Stickler syndrome due to high prevalence and co-occurring visual impairment.
