Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

Dina A. Schott*, Constance T. R. M. Stumpel, Merel Klaassens

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Kabuki syndrome (KS) is a multiple congenital malformation syndrome which has been described across all ethnic groups. Most KS patients possess two genetic subtypes: KMT2D-associated, autosomal-dominant KS type 1 (KS1; OMIM 147920); and KDM6A-associated, X-linked-dominant KS type 2. Generalized joint hypermobility is one feature of KS, but its exact incidence and pattern is not well described in the literature. As part of our prospective study on the metabolic and growth effect of GH treatment, we assessed children from our Dutch Kabuki cohort who were eligible for growth hormone therapy. We assessed severity and pattern of joint hypermobility, both before and after 24months of growth hormone replacement therapy. The prevalence of hypermobility was 31% in boys and 14% in girls using the Beighton score and 69% in boys and 57% in girls using the Bulbena score. This varies from the general population where girls are more affected. After 2years of growth hormone treatment, there was a statistically significant decrease in the presence of joint hypermobility to 6% using the Bulbena score and none with respect to the Beighton score. We hypothesized that this result suggests a direct effect of growth hormone on connective tissue in patients with KS.

Original languageEnglish
Pages (from-to)219-223
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Issue number2
Publication statusPublished - Feb 2019


  • growth hormone treatment
  • joint hypermobility
  • Kabuki syndrome
  • KDM6A
  • KMT2D
  • EARS
  • MLL2


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