Management of individuals with autosomal recessive OTFSC2 include:
• Developmental delay / intellectual disability – supportive measures
• Hearing assessment baseline and follow up with ENT specialist for hearing aids & other services. If the initial evaluation of hearing is normal, annual audiological assessment or as clinically indicated
• For immunodeficiency – baseline and periodic evaluation as clinically indicated. Management in individual with immunodeficiency depends on severity. For severe combined immunodeficiency – thymic transplantation, hematopoietic stem cell transplantation, live viral vaccines are contraindicated.
• For skeletal deformities – Paediatric orthopaedics consultation for supportive measures and corrective surgery
• Cardiac malformation is treated according standard medical and surgical therapy
• For endocrine manifestation – standard protocol care from the endocrinologist