Lamb-Shaffer syndrome is a rare developmental disorder associated with SOX5 gene variants. It features speech delay, learning difficulties, and sometimes eye anomalies.
Clinical features
Children typically present with delayed milestones and characteristic behaviour.
- Mild to moderate intellectual disability and language impairment
- Distinctive facial appearance in some individuals
- Reported ocular findings include strabismus, refractive errors, and optic nerve anomalies in a subset of patients
- Diagnosis confirmed by genetic testing
Management
Care focuses on developmental support and monitoring associated problems.
- Early intervention for speech, occupational, and educational needs
- Regular eye examinations to optimise vision and treat squint or amblyopia
- Genetic counselling for families
- Multidisciplinary follow-up tailored to individual strengths and difficulties
