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Tall stature and abnormally rapid growth

Last updated: June 4, 2021

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Tall stature is defined as a height of more than 2 standard deviations above the population mean or exceeding the 97th percentile for age and sex. In most cases, tall stature represents an acceptable normal variation in growth. However, tall stature can also be the result of an underlying disorder (i.e., endocrine or genetic abnormalities). Differentiating between normal or pathological growth variations involves a thorough medical history and clinical examination. Bone age tests, karyotyping, and endocrinological tests can confirm the diagnosis of a pathological cause.

  • Definition: A height of more than 2 standard deviations above the population mean or exceeding the 97thpercentile on the normal growth curve for age and sex.
  • Most tall children do not have a pathological cause.

Evaluation of growth

Etiology of tall stature

Etiology of tall stature
Etiology Characteristic features
Nonpathological Familial/Constitutional tall stature
Endocrine Hyperthyroidism

Obesity

  • BMI
  • Slightly advanced bone age
  • Modest overgrowth
  • Early onset of puberty
  • Almost normal final height
Pituitary gigantism (growth hormone excess)
Precocious puberty
Genetic Beckwith-Wiedemann syndrome
Homocystinuria
Klinefelter syndrome
Marfan syndrome
Fragile X syndrome
Sotos syndrome (cerebral gigantism)
Weaver syndrome
47,XYY syndrome and 47,XXX syndrome
Neurofibromatosis type 1

References:[2][3][4][5][6]

Gigantism

Other causes

References:[7]

Beckwith-Wiedemann syndrome [8]

Sotos syndrome (cerebral gigantism) [10]

  • Epidemiology: 1/10,000–14,000 newborns [11]
  • Etiology: autosomal dominant mutation in the NSD1 gene on chromosome 5 [10]
  • Symptoms [10]
    • Tall stature
    • Macrocephalus
    • Facies
      • High forehead
      • Elongated face
      • Hypertelorism
      • Pointed chin
      • Receding hairline
    • Psychomotor retardation
    • Hypotonia
    • Delays in achieving milestones (e.g., walking, talking, clumsiness)
  • Diagnosis
    • Usually clinical
    • DNA studies (5q35 microdeletions and partial NSD1 deletions in 10–15% of cases)
    • Prenatal diagnosis possible
  • Treatment
    • Only symptomatic treatment is possible.
    • Multiprofessional approach
  • Course
    • Normal growth rate from 3–5 years of age (only moderately increased adult height)
    • Permanent cognitive-developmental impairments are common.

Other causes

  1. Beckwith-Wiedemann Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1394/. Updated: August 11, 2016. Accessed: February 19, 2018.
  2. Kalish JM, Deardorff MA. Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?. American Journal of Medical Genetics Part A. 2016; 170 (9): p.2261-2264. doi: 10.1002/ajmg.a.37881 . | Open in Read by QxMD
  3. Sotos Syndrome. https://rarediseases.org/rare-diseases/sotos-syndrome/. . Accessed: November 13, 2020.
  4. Sotos syndrome. https://medlineplus.gov/genetics/condition/sotos-syndrome/#statistics. . Accessed: November 13, 2020.
  5. Zargham S, Crotty JE. Tall Stature. Pediatrics in Review. 2014; 35 (12): p.538-539. doi: 10.1542/pir.35-12-538 . | Open in Read by QxMD
  6. Richmond EJ, Rogol AD. The Child with Tall Stature and/or Abnormally Rapid Growth. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. http://www.uptodate.com/contents/the-child-with-tall-stature-and-or-abnormally-rapid-growth.Last updated: October 24, 2016. Accessed: February 16, 2017.
  7. Barstow C, Rerucha C. Evaluation of short and tall stature in children. Am Fam Physician. 2015; 92 (1): p.43-50.
  8. Kumar S. Tall stature in children: differential diagnosis and management. Int J Pediatr Endocrinol. 2013; 2013 (Suppl 1): p.53. doi: 10.1186/1687-9856-2013-S1-P53 . | Open in Read by QxMD
  9. Otter M, Schrander-stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2009; 18 (3): p.265-271. doi: 10.1038/ejhg.2009.109 . | Open in Read by QxMD
  10. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES. 47,XYY syndrome and male infertility. Rev Urol. 2013; 15 (4): p.188–196.
  11. Eugster EA, Geffner ME, Hoppin AG. Pituitary Gigantism. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. http://www.uptodate.com/contents/pituitary-gigantism.Last updated: November 10, 2015. Accessed: February 16, 2017.
  12. XYY Syndrome. http://www.healthline.com/health/xyy-syndrome#Overview1. Updated: October 27, 2016. Accessed: February 16, 2017.