Growth charts in Cockayne syndrome type 1 and type 2

Eur J Med Genet. 2021 Jan;64(1):104105. doi: 10.1016/j.ejmg.2020.104105. Epub 2020 Nov 20.


Cockayne syndrome (CS) is a multisystem degenerative disorder divided in 3 overlapping subtypes, with a continuous phenotypic spectrum: CS2 being the most severe form, CS1 the classical form and CS3 the late-onset form. Failure to thrive and growth difficulties are among the most consistent features of CS, leaving affected individuals vulnerable to numerous medical complications, including adverse effects of undernutrition, abrupt overhydration and overfeeding. There is thus a significant need for specific growth charts. We retrospectively collected growth parameters from genetically-confirmed CS1 and CS2 patients, used the GAMLSS package to construct specific CS growth charts compared to healthy children from WHO and CDC databases. Growth data were obtained from 88 CS patients with a total of 1626 individual growth data points. 49 patients were classified as CS1 and 39 as CS2 with confirmed mutations in CSB/ERCC6, CSA/ERCC8 or ERCC1 genes. Individuals with CS1 initially have normal growth parameters; microcephaly occurs from 2 months whereas onset of weight and height restrictions appear later, between 5 and 22 months. In CS2, growth parameters are already below standard references at birth or drop below the 5th percentile before 3 months. Microcephaly is the first parameter to show a delay, appearing around 2 months in CS1 and at birth in CS2. Height and head circumference are more severely affected in CS2 compared to CS1 whereas weight curves are similar in CS1 and CS2 patients. These new growth charts will serve as a practical tool to improve the nutritional management of children with CS.

Keywords: COFS; Cockayne syndrome; Growth; Growth charts; Microcephaly.

MeSH terms

  • Body Height*
  • Child
  • Child, Preschool
  • Cockayne Syndrome / diagnosis*
  • Cockayne Syndrome / genetics
  • DNA Helicases / genetics
  • DNA Repair Enzymes / genetics
  • DNA-Binding Proteins / genetics
  • Endonucleases / genetics
  • Female
  • Growth Charts*
  • Humans
  • Infant
  • Male
  • Mutation
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Transcription Factors / genetics


  • DNA-Binding Proteins
  • ERCC8 protein, human
  • Poly-ADP-Ribose Binding Proteins
  • Transcription Factors
  • ERCC1 protein, human
  • Endonucleases
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes