Growth abnormalities such as macrocephaly and short stature have been descr
ibed and are considered a consistent finding in neurofibromatosis type 1 (N
F1), one of the most common autosomal dominant disorders in man. We present
here a clinical study on the growth profile of a sample of NF1 patients co
llected through a population-based registry that covers three contiguous re
gions of North-East Italy (NEI-NF Registry), Auxometric traits of 528 NF1 p
atients have been measured with the aim of drawing growth charts for height
, weight, and head circumference (OFC), Height velocity charts were based o
n a subset of 143 children who underwent multiple measurements. No differen
ces in height were apparent between NF1 and normal subjects up to age 7 (gi
rls) and 12 (boys) years; subsequently, the 50th centile of NF1 subjects te
nds to overlap with the 25th centile of normal subjects, and the 3rd centil
e is much lower in NF1 subjects than in normal subjects, mainly during adol
escence, The negatively skewed distribution of height seems to indicate tha
t height growth impairment affects only a proportion of NF1 subjects; heigh
t growth impairment does not seem related to disease severity. As for weigh
t, our data suggest that slight overweight is a characteristic of adult NF1
subjects (mainly among males), independent of disease severity. Height gro
wth velocity is normal during childhood for both sexes, whereas the puberta
l spurt is slightly anticipated and reduced in NF1 boys but not in girls. O
ur data confirm previous observations that macrocrania affects most NF1 sub
jects; the shape of the head growth curve is similar in NF1 and normal girl
s, whereas NF1 boys present an OFC pubertal growth spurt much more pronounc
ed and delayed than normal boys. The disproportion between OFC and height s
eems to be related to disease severity in boys but not in girls. Growth cha
rts presented here can be useful in neurofibromatosis clinics for the ident
ification of the effects of secondary growth disorders, for growth prognosi
s, and for the evaluation of the effects of a therapy such as GH therapy af
ter radiotherapy for optic glioma.