Natural History Study for DNA Repair Disorders

Inclusion Criteria

• •Diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics l characteristics
• •Has one or more of the following neurodevelopmental or neurological complications
• •Gross motor delay (non-ambulatory or started walking after age 18 months)
• •Language delay (non-verbal or started talking after 18 months)
• •Altered muscle tone (hypertonia, dystonia, hypotonia)
• •Gait difficulties, including stiff gait, short stride, frequent falls, use of orthotics, use of walker
• •Tremors
• •Microcephaly
• •Is a family member of an individual with the above condition
• •No restrictions regarding current ambulatory status
• •Minimum age for enrollment eligibility will be 6 months due to fragility of neonates with severe forms of DNA repair disorders and limitations of motor assessment scales in infants younger than 6 months. There will be no maximum age for enrollment eligibility.
• •No restrictions regarding gender, race, or ethnicity.
• •Voluntary written consent from the participant if adult capable of consenting or parent/guardian if minor or not capable of consenting
• •Written consent of Legally Authorized Representative if enrolling adult lacks capacity to consent