Stickler Syndrome: Introduction

Stickler syndrome is a hereditary connective tissue disorder that affects collagen production. It is characterized by ocular, orofacial, auditory, and musculoskeletal abnormalities. The condition is genetically heterogeneous, with several types identified based on the affected gene.

Key points:

• Inheritance: Predominantly autosomal dominant
• Prevalence: Estimated at 1 in 7,500 to 9,000 newborns
• Genes involved: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3

Clinical Features of Stickler Syndrome

Ocular Manifestations:

• High myopia (typically congenital)
• Vitreoretinal degeneration
• Retinal detachment (increased risk)
• Cataract
• Glaucoma

Orofacial Features:

• Midfacial hypoplasia
• Micrognathia
• Cleft palate (including submucous cleft)
• Pierre Robin sequence (in some cases)

Auditory Issues:

• Sensorineural hearing loss
• Recurrent otitis media

Musculoskeletal Abnormalities:

• Joint hypermobility
• Early-onset osteoarthritis
• Scoliosis
• Pectus excavatum or carinatum

Diagnosis of Stickler Syndrome

Diagnosis is based on clinical features, family history, and genetic testing.

Clinical Diagnostic Criteria:

• Ocular findings (e.g., vitreoretinal degeneration, myopia)
• Orofacial features (e.g., midfacial hypoplasia, cleft palate)
• Auditory symptoms (hearing loss)
• Musculoskeletal abnormalities

Genetic Testing:

• Molecular genetic testing for known pathogenic variants
• Sequence analysis of relevant genes (COL2A1, COL11A1, etc.)
• Deletion/duplication analysis if sequence analysis is negative

Differential Diagnosis:

• Marshall syndrome
• Wagner syndrome
• Kniest dysplasia
• Ehlers-Danlos syndrome

Management of Stickler Syndrome

Management is multidisciplinary and focuses on addressing specific symptoms and preventing complications.

Ocular Care:

• Regular ophthalmologic examinations
• Refractive error correction
• Prophylactic measures for retinal detachment (e.g., laser treatment)
• Prompt treatment of retinal detachment if it occurs

Audiologic Management:

• Regular hearing assessments
• Hearing aids when necessary
• Management of recurrent otitis media

Orthopedic Care:

• Physical therapy for joint hypermobility
• Management of early-onset osteoarthritis
• Monitoring and treatment of scoliosis

Craniofacial Management:

• Cleft palate repair when present
• Orthodontic treatment as needed
• Management of Pierre Robin sequence if present

Genetic Counseling:

• Discuss inheritance pattern and recurrence risk
• Offer testing for at-risk family members