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.

Cockayne综合征（CS）是一种多系统退化性疾病，分为3种重叠的亚型，具有连续的表型谱：CS2是最严重的形式，CS1是经典形式，CS3是晚期发作形式。CS壮成长和生长困难是CS最一致的特征之一，使受影响的个体容易遭受许多医疗并发症的困扰，包括营养不良，突然过度水化和过度喂养的不良影响。因此，非常需要特定的增长图。

我们回顾性地收集了来自基因确诊的CS1和CS2患者的生长参数，与来自WHO和CDC数据库的健康儿童相比，使用GAMLSS软件包构造了特定的CS生长图。

从88名CS患者获得生长数据，共有1626个个体生长数据点。在CSB / ERCC6，CSA / ERCC8或ERCC1基因中确认有突变的49例患者被分类为CS1，39例被分类为CS2。患有CS1的个体最初具有正常的生长参数；小头畸形从2个月开始发生，而体重和身高限制的发作则在5到22个月后出现。在CS2中，生长参数在出生时就已经低于标准参考水平，或者在3个月前下降到第5个百分点以下。小头畸形是显示延迟的第一个参数，出现在CS1大约2个月，出生时出现在CS2。与CS1相比，CS2中的身高和头围受到的影响更大，而CS1和CS2患者的体重曲线相似。

这些新的生长图将作为改善CS儿童的营养管理的实用工具。