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Medical Information | Non-US Health Care Professionals

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In children, short stature could indicate a growth-related disorder

pediatric growth

A child’s growth can be affected by pathological conditions—such as growth hormone deficiency—or genetic syndromes, such as Turner syndrome. If you notice a slowdown in your patient’s growth rate, you may want to consider the possibility of a growth-related disorder.1

How is short stature defined?

Short stature is defined as height:

>2 standard deviation

below the mean for their age and gender2

Or
<3rd

percentile2

SD=standard deviation.

Some common causes of short stature in children2

Most common pathological causes

  • Growth hormone deficiency
  • Hypothyroidism
  • Celiac disease
  • Turner syndrome

Other causes

  • Renal, hepatic, and gastrointestinal diseases
  • Other genetic syndromes

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Resources for your practice

Our calculators can help estimate height velocity and other metrics routinely used in clinical practice. For US health care professionals only.

Resources for your practice

Our calculators can help estimate height velocity and other metrics routinely used in clinical practice. For US health care professionals only.

Overview of pediatric growth-related disorders

Learn about the etiology and some of the major clinical signs of select growth-related disorders.

Growth hormone deficiency

Etiology

May be congenital or acquired, due to a history of head trauma, central nervous system infection, birth trauma, or cranial irradiation.2
 

Major clinical signs

Physical exam may reveal microphallus or midline craniofacial abnormalities.

Growth may initially be normal but then fall progressively off the growth curve.2  

Typically, children with this condition have:

  • Short stature, which is often the only clinical manifestation of GHD3
  • A delayed bone age with a preserved or increased weight for age2

Noonan syndrome

Etiology

May affect between ≈1/1000 and 1/2500 live births.1

  • Most often the genetic defect is identified by PTPN11 gene sequencing1
  • KRAS, SHOC2, RAF1, and SOS1 gene sequencing also may help identify the genetic defect associated with a specific case of NS1

Major clinical signs

Usually birth weight and length are normal1

  • Based on the underlying genetic defect, manifestations of NS may vary, but right sided cardiac findings are common1
  • In about 50% to 70% of NS cases, developmental delays, growth failure, and short stature are frequently observed1
  • In up to 10%–15% of children with NS, scoliosis and other spinal abnormalities are present1

Turner syndrome

Etiology

A chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome with one or more clinical manifestations.4
 

Major clinical signs

Some common abnormalities associated with Turner Syndrome are4:

  • Short stature
  • Pterygium colli (webbed neck)
  • Low hairline at the back of the neck
  • Lymphedema
  • Skeletal abnormalities
  • Heart defects

Small for gestational age

Etiology

Children with birth weight and/or length at least 2 SD below the mean for gestational age are classified as born SGA. There are several causes, including fetal, placental, maternal, and environmental factors, but the specific etiology is frequently unknown.5

In SGA infants where an etiology is identified, about 50% involve maternal factors, 5% involve fetal abnormalities, and less than 5% are felt to be due to placental pathology.5

SGA may occur alongside intrauterine growth restriction (IUGR) and/or premature birth or be diagnosed at term without any prenatal complications.5

Major clinical signs

Heterogeneous and characterized by a broad spectrum of clinical characteristics, including6:  

  • Endocrine and metabolic disturbances
  • Potential cognitive impairment
  • Low lean mass and potentially increased central adiposity
  • Some children born SGA have inadequate catch-up growth in first 2 years

Idiopathic short stature

Etiology

Unknown. However, children with ISS should be considered growth hormone sufficient. They have normal body proportions, no history of a low birth size, no chromosomal abnormalities, no dysmorphic syndromes, and no systemic, endocrine, or nutritional diseases.7
 

Major clinical signs

In absence of pathological causes, children with height >2 SD below the mean can be considered to have ISS.1

  • Often short stature is the only clinical feature1

Prader-Willi syndrome

Etiology

Due to lack of expression of paternally inherited genes in the region of chromosome 15q11.2-q13.8

70% have a deletion of the paternally inherited region, while 25% have maternal uniparental disomy in which the individual has inherited 2 copies of the critical region on  chromosome 15 from the mother.8

5% of cases have abnormal imprinting or methylation that silences paternal genes in the PWS region.8
 

Major clinical signs

The most distinctive characteristics in infancy9:

  • Poor muscle tone
  • Lethargy
  • Difficulty feeding
  • Poor suck
  • Poor reflexes

The most distinctive characteristics in early childhood9:

  • Facial features such as narrow forehead and almond-shaped eyes
  • Puffy hands and fingers
  • Delays in motor and language skills
  • Learning disabilities
  • Behavior problems
  • Increased appetite
  • Obesity
  • Short stature

The most distinctive characteristics in late childhood/adolescence9,10:

  • Abnormally increased appetite
  • Lack of satiety after eating
  • Food-seeking behavior
  • Obesity-related complications such as diabetes and sleep apnea9

Disease education for your patients

Browse a collection of educational materials for growth-related disorders to share with your patients.

Disease education for your patients

Browse a collection of educational materials for growth-related disorders to share with your patients.

References:

  1. Rogol AD, Hayden GF. Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr. 2014;164:S1-S14.
  2. Barstow C, Rerucha C. Evaluation of short and tall stature in children. Am Fam Physician. 2015;92(1):43-50.
  3. GH Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J Clin Endocrinol Metab. 2000;85(11):3990-3993.
  4. Gravholt CH, Andersen NH, Conway GS, et al; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-G70. 
  5. Houk CP, Lee PA. Early diagnosis and treatment referral of children born small for gestational age without catch-up growth are critical for optimal growth outcomes. Int J Ped Endocrinol. 2012;2012(1):11. 
  6. Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R, Rogol A. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab. 2007;92:804-810. 
  7. Pedicelli S, Peschiaroli E, Violi E, Cianfarani S. Controversies in the definition and treatment of idiopathic short stature (ISS). J Clin Res Ped Endo. 2009;1(3):105:115. 
  8. Irizarry KA, Miller M, Freemark M, Haqq AM. Prader Willi Syndrome: genetics, metabolomics, hormonal function, and new approaches to therapy. Adv Pediatr. 2016;63(1):47-77. 
  9. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10-26. 
  10. Williams K, Scheimann A, Sutton V, Hayslett E, Glaze DG. Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and composition. J Clin Sleep Med. 2007;4(2):111-118.