A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data

Julie E Hoover Fong, John McGready, Kerry J Schulze, Adekemi Yewande Alade, Charles I. Scott

Research output: Contribution to journalArticle


The height-for-age (HA) reference currently used for children with achondroplasia is not adaptable for electronic records or calculation of HA Z-scores. We report new HA curves and tables of mean and standard deviation (SD) HA, for calculating Z-scores, from birth-16 years in achondroplasia. Mixed longitudinal data were abstracted from medical records of achondroplasia patients from a single clinical practice (CIS, 1967–2004). Gender-specific height percentiles (5, 25, 50, 75, 95th) were estimated across the age continuum, using a 2 month window per time point smoothed by a quadratic smoothing algorithm. HA curves were constructed for 0–36 months and 2–16 years to optimize resolution for younger children. Mean monthly height (SD) was tabulated. These novel HA curves were compared to reference data currently in use for children with achondroplasia. 293 subjects (162 male/131 female) contributed 1,005 and 932 height measures, with greater data paucity with age. Mean HA tracked with original achondroplasia norms, particularly through mid-childhood (2–9 years), but with no evidence of a pubertal growth spurt. Standard deviation of height at each month interval increased from birth through 16 years. Birth length was lower in achondroplasia than average stature and, as expected, height deficits increased with age. A new HA reference is available for longitudinal growth assessment in achondroplasia, taking advantage of statistical modeling techniques and allowing for Z-score calculations. This is an important contribution to clinical care and research endeavors for the achondroplasia population.

Original languageEnglish (US)
Pages (from-to)1226-1230
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 1 2017



  • achondroplasia
  • anthropometry
  • growth
  • growth curve
  • height-age

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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