Researchers from Children’s Hospital of Philadelphia (CHOP) collaborated with Amsterdam University Medical Center in the Netherlands and Regina Margherita Children's Hospital in Italy to develop specialized growth charts for children with Beckwith–Wiedemann Spectrum (BWSp), the most common epigenetic overgrowth and cancer predisposition disorder in children. The findings, highlighted in a study in the American Journal of Medical Genetics Part A, illustrate how newly developed growth charts are designed to better represent how children with the condition grow, which can improve personalized treatment.
BWSp was originally called Beckwith-Wiedemann Syndrome (BWS) but the name is shifting to “spectrum” as researchers have learned there is a wide spectrum in the severity of symptoms across affected patients. BWSp is rare, with a prevalence of 1 in 10,340 births, and occurs when there are defects in how a specific region of chromosome 11p15 functions. Children with BWSp often grow faster and are larger than their peers, especially during puberty and adolescence. Until now, doctors have relied on standard growth charts from the World Health Organization (WHO), which don’t accurately represent the growth patterns of BWSp.
In this study, researchers collected growth data, such as height, weight and head size, from 581 children and adolescents with BWSp from the Netherlands, Italy and the United States. Using advanced modeling techniques, researchers then created BWSp-specific charts that show typical growth for pediatric patients with this condition.
Compared to the WHO’s general population charts, children with BWSp were consistently taller, heavier and had larger head sizes. The average height at age 18 was about 180.6 cm (5 feet 11 inches) for boys and 166.3 cm (5 feet 5.5 inches) for girls with BWSp – both above the global average.
“Our findings show that BWSp growth follows a unique pattern, especially during adolescence,” said Jennifer M. Kalish, MD, PhD, a senior study author, pediatric geneticist and director of the BWS Program at CHOP. “These new growth charts are a valuable step forward in improving the care and quality of life for children with this rare syndrome, giving clinicians the opportunity to take a more personalized approach of what to expect and when to intervene related to health concerns.”
Clinicians and families can view the growth charts directly through the journal article. However, the CHOP BWS team is working on making these charts accessible in the electronic medical record and through the CHOP BWS website to potentially provide broader clinical access.
The work was generated within the European Reference Network (ERN) ITHACA and ERN CRANIO. The research was supported by the Lorenzo “Turtle” Sartini Jr. Endowed Chair in Beckwith-Wiedemann Syndrome Research and the Victoria Fertitta Fund through the Lorenzo “Turtle” Sartini Jr. Endowed Chair in Beckwith-Wiedemann Syndrome Research.
Maas et al. “Growth Charts for Children with Beckwith–Wiedemann Spectrum.” Am J Med Genet. Online April 4, 2025. DOI: 10.1002/ajmg.a.64073.
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Researchers from Children’s Hospital of Philadelphia (CHOP) collaborated with Amsterdam University Medical Center in the Netherlands and Regina Margherita Children's Hospital in Italy to develop specialized growth charts for children with Beckwith–Wiedemann Spectrum (BWSp), the most common epigenetic overgrowth and cancer predisposition disorder in children. The findings, highlighted in a study in the American Journal of Medical Genetics Part A, illustrate how newly developed growth charts are designed to better represent how children with the condition grow, which can improve personalized treatment.
BWSp was originally called Beckwith-Wiedemann Syndrome (BWS) but the name is shifting to “spectrum” as researchers have learned there is a wide spectrum in the severity of symptoms across affected patients. BWSp is rare, with a prevalence of 1 in 10,340 births, and occurs when there are defects in how a specific region of chromosome 11p15 functions. Children with BWSp often grow faster and are larger than their peers, especially during puberty and adolescence. Until now, doctors have relied on standard growth charts from the World Health Organization (WHO), which don’t accurately represent the growth patterns of BWSp.
In this study, researchers collected growth data, such as height, weight and head size, from 581 children and adolescents with BWSp from the Netherlands, Italy and the United States. Using advanced modeling techniques, researchers then created BWSp-specific charts that show typical growth for pediatric patients with this condition.
Compared to the WHO’s general population charts, children with BWSp were consistently taller, heavier and had larger head sizes. The average height at age 18 was about 180.6 cm (5 feet 11 inches) for boys and 166.3 cm (5 feet 5.5 inches) for girls with BWSp – both above the global average.
“Our findings show that BWSp growth follows a unique pattern, especially during adolescence,” said Jennifer M. Kalish, MD, PhD, a senior study author, pediatric geneticist and director of the BWS Program at CHOP. “These new growth charts are a valuable step forward in improving the care and quality of life for children with this rare syndrome, giving clinicians the opportunity to take a more personalized approach of what to expect and when to intervene related to health concerns.”
Clinicians and families can view the growth charts directly through the journal article. However, the CHOP BWS team is working on making these charts accessible in the electronic medical record and through the CHOP BWS website to potentially provide broader clinical access.
The work was generated within the European Reference Network (ERN) ITHACA and ERN CRANIO. The research was supported by the Lorenzo “Turtle” Sartini Jr. Endowed Chair in Beckwith-Wiedemann Syndrome Research and the Victoria Fertitta Fund through the Lorenzo “Turtle” Sartini Jr. Endowed Chair in Beckwith-Wiedemann Syndrome Research.
Maas et al. “Growth Charts for Children with Beckwith–Wiedemann Spectrum.” Am J Med Genet. Online April 4, 2025. DOI: 10.1002/ajmg.a.64073.
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