Cockayne Syndrome (CS), Trichothiodystrophy (TTD) and Bloom Syndrome (BSyn)


Making a referral

We accept referrals from:

  • clinical genetics service
  • GPs
  • paediatricians
  • other related health professionals

The referral form must be completed in full and emailed to [email protected]. Please also include any recent clinic letters, along with genetic testing results.

(DOCX 91.04KB)
(DOCX 98.64KB)

The national CS/TTD/BSyn service is funded for patients who are a resident within the UK and registered with a GP.

It is possible for overseas patients to be seen, however the appropriate documentation and funding must be secured before appointment allocation. We advise you contact the clinical team or service administrator for advice before sending your referral.

Patients that live in Scotland, Wales or Northern Ireland must apply for funding from their respective health commissioning boards before referral.

We are not able to see undiagnosed patients with a suspected genetic diagnosis.


Referral criteria

Inclusion criteria

Major criteria

  • post-natal growth failure <5th centile by 2 years of age
  • progressive microcephaly
  • MRI: white matter abnormality, cerebellar atrophy, basal ganglia calcification
  • confirmed or strongly suspected diagnsosis of DNA repair disorder specifically CS/TDD/BSyn, or CS like conditions, or XRCC4

Minor criteria

  • photosensitivity
  • peripheral neuropathy
  • pigmentary retinopathy
  • sensorineural hearing loss
  • dental abnormalities
  • characterisitc facial features

Exclusion criteria

  • no diagnosis or suspicion of DNA repair disorder specifically CS/TDD/BSyn, or CS like conditions

Last updated: November 2023

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