Physician Resources

Cockayne syndrome (CS) and Trichothiodystrophy (TTD) are ultra-rare, autosomal recessive disorders caused by defects in DNA repair and transcription-coupled nucleotide excision repair (TC-NER). Both conditions are characterized by multisystem involvement, early-onset neurodevelopmental impairment, growth failure, and progressive clinical features. Despite overlapping genetic pathways, CS and TTD demonstrate distinct spectrum of clinical presentation, underscoring the importance of precise diagnosis.  Early recognition and genetic confirmation can significantly impact care planning and family counseling.