Growth charts in Cockayne syndrome type 1 and type 2

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