Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort

Abstract

As growth references for achondroplasia are limited to reports from United States, Japan, Argentina, and Australia, the aim of this study was to construct growth references for height, weight, head circumference, and body mass index (BMI) from a European cohort of children with achondroplasia and to discuss the development of these anthropometric variables. A mix of cross-sectional and longitudinal, retrospective, and prospective data from 466 children with achondroplasia and 4,375 measuring occasions were modeled with generalized additive model for location, scale and shape (GAMLSS) to sex-specific references for ages 0 to 20 years. Loss in height position, that is, reduction in height standard deviation scores, occurred mainly during first 2 years of life while pubertal growth seemed normal if related to adult height. Adult height was 132 cm in boys and 124 cm in girls with a variability comparable to that of the general population and seems to be remarkably similar in most studies of children with achondroplasia. BMI had a syndrome-specific development that was not comparable to BMI development in the general population. Weight and BMI might be misleading when evaluating, for example, metabolic health in achondroplasia. Head circumference reached adult head size earlier than in the general population. Increased tempo of head circumference growth necessitates thus close clinical follow-up during first postnatal years.

Current knowledge of medical complications in adults with achondroplasia: A scoping review

“…Obesity and high BMI are frequently reported in achondroplasia . However, BMI and other anthropometric measurements are poor predictors of body fat and fat distribution, and even more in individuals of disproportionate short stature, such as achondroplasia .…”

“…18,22,32,[60][61][62][63] However, BMI and other anthropometric measurements are poor predictors of body fat and fat distribution, 64 and even more in individuals of disproportionate short stature, such as achondroplasia. 32,60,65 In a recently published paper, the authors found an atypical obesity with preferential abdominal obesity in achondroplasia children. 66 The obesity was not associated with classical complications, such as diabetes or hypercholesterolemia, suggesting an uncommon energy metabolism in achondroplasia.…”

Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length

“…Grossly deviant body proportions due to short limbs are typical for achondroplasia (Horton, Rotter, Rimoin, Scott, & Hall, ; Murdoch et al, ; Nehme, Riseborough, & Tredwell, ; Wynne‐Davies, Walsh, & Gormley, ). The constitutionally activating fibroblast growth factor receptor 3 (FGFR3) mutation (Rousseau et al, ; Shiang et al, ) confers major growth inhibition of the extremities causing disproportional, extreme short stature with an adult height of about 133/124 cm in men/women (Merker et al, ). A major bodily disproportion is thus a signature for achondroplasia, yet documentation of body proportion development is limited to graphical illustrations of sitting height (Nehme et al, ), upper and lower body segment (Horton et al, ), and upper‐to‐lower body segment ratio (Hoover‐Fong, Schulze, McGready, Barnes, & Scott, ) and tabled reference values are not available.…”

Height growth velocity during infancy and childhood in achondroplasia

“…In comparison with growth velocities of non-ACH children from the United States, in a sample processed with the same mathematical method, the growth velocity of ACH-children was lesser in magnitude (Berkey & Reed, 1987). This growth retardation during infancy, determine the severe growth deficit at 2 years of age for ACH children described in different populations (del Pino et al, 2010;Hoover-Fong et al, 2017;Merker et al, 2018;Tofts et al, 2017).…”

“…During infancy and childhood height falls progressively and in adolescents, is approximately 5.00 SDS below the 50th centile for Argentine and others non-ACH populations with a mean adult height of −6.42 and −6.72 SDS, for males and females, respectively (del Pino et al, 2010;Hoover-Fong, McGready, Schulze, Alade, & Scott, 2017;Lejarraga, del Pino, Fano, Caino, & Cole, 2009;Merker et al, 2018;Tofts, Das, Collins, & Burton, 2017).…”