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Cockayne syndrome type 2

Synonym(s) -
Prevalence -
Inheritance Autosomal recessive
Age of onset -
  • Q87.8
  • C0751038
MeSH -
MedDRA -


Cockayne syndrome type 2 (CS2) is the severe form of Cockayne syndrome (see this term) presenting at birth and is characterized by neonatal growth failure, severely reduced or absent neurological development, eye abnormalities, arthrogryposis or early postnatal spinal contractures (kyphosis, scoliosis) and often fatal before the age of 7. CS2 clinically overlaps with the COFS syndrome (see this term), the prenatal extreme form of CS.

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