Short stature in a child is defined as a child 2 or more standard deviations below the mean height for children of that gender and chronological age. The height growth pattern over a period of time is more important than a single measurement at one point in time. A growth pattern is abnormal if it shows slowed growth that deviates from a previous pattern or percentile (ie. crosses percentile lines on a linear growth curve).
A child’s growth is important because it is a strong indicator of his or her health. Short stature in a child must be fully investigated to distinguish between a normal variation and an underlying pathological condition.
Basic anatomy / physiology
Height growth is a continuous, non-linear process with three phases: infantile, childhood, and pubertal. In the first two years of life, or infantile phase, growth is rapid, but decelerates. During this time, intrauterine growth is offset as infants grow towards their genetic potential and may cross percentile lines. Total growth during this period is approximately 30 to 35 cm. During the childhood phase, growth is at a relatively constant velocity at 5 to 7 cm per year, often with a slight slowing in late childhood. Finally, in the pubertal phase, there is a growth spurt of 8 to 14 cm per year, as a result of increasing growth hormone and gonadal steroid hormone secretion.
A child has a final growth potential estimated using the mid-parental height, adjusted for the child’s gender. For girls, 13 cm is subtracted from her father’s height, which is then averaged with her mother’s height. For boys, 13 cm is added to his mother’s height, which is then averaged with his father’s height. A range 8.5 cm above or below this predicted height is considered within the 3rd to 97th percentile.
- Girls: (Dad’s height + Mom’s height – 13cm)/2
- Boys: (Dad’s height + Mom’s height + 13cm)/2
Normal variations of slowed growth include constitutional delay and familial or genetic factors.
Pathological conditions resulting in short stature include malnutrition or malabsorption, chronic diseases, skeletal or bone diseases, and endocrinopathies.
Presentation (and Differential Diagnosis)
There are 2 sub-classifications of short stature due to normal variation:
Familial Short Stature:
- Short parents
- Normal birth history and gestational weight
- Short stature with:
- Normal linear growth velocity for age
- Bone age consistent with chronological age
- Normal age for onset of puberty
- Absence of physical or psychological disease
Constitutional Short Stature:
- Delayed growth in one parent but average final stature
- Normal birth history and growth for first few months
Short stature with:
- Period of severe growth deceleration lasting 1-3 yrs and may begin at less than 2 years
- Bone age lags chronological age
- Delayed onset of puberty
- Absence of physical or psychological disease
- Final height consistent with mid-parental height
There are 4 patterns of short stature due to pathological conditions:
Increased Weight/Height ratio
- Causes: Endocrinopathies
- Cushing’s syndrome
- Growth hormone deficiency
- Normal or decreased Weight/Height ratio
- Causes: Inadequate calories
- Malabsorption (ex. due to Celiac Disease)
- Chronic Disease (ex. renal, cardiac, hematological)
Disproportionate weight for height
- Skeletal dysplasias
- Metabolic bone disease
- Spinal disorders
Associated with dysmorphic features
- Causes: Chromosomal abnormalities or syndromes
- Chromosomal: Down Syndrome, Turner’s Syndrome
- Non-chromosomal: Russell-Silver, Noonan syndrome
- Maternal exposures: Alcohol, smoking and other toxins
Question to Ask
- Include parents’ and siblings’ heights, age of puberty, medical problems, and history of consanguinity or congenital anomalies
- Ask about maternal problems in pregnancy, complications with pregnancy or delivery, birth weight/length, and postnatal problems
- Investigate developmental milestones, age of tooth eruption, school performance
Diet and Nutrition History:
- Check for sufficient calories, calcium, protein, and vitamins
Previous Medical History:
- Include ear and urinary tract infections, poor appetite, diarrhea, trauma, surgery, or hospitalizations
- Ask about usage of methylphenidate or other such stimulants, antidepressants, or anticonvulsants
- Check for factors that many influence normal growth, including sleep, exercise, and psychosocial factors such as a sense of security and of being loved
- General examination – weight and height measurement and plot on the appropriate growth chart; body proportions – arm span, upper-to-lower body ratio, head circumference
- General systemic examination including lungs, heart, abdomen, neurologic systems
- Head and neck – for maturation (acne, facial hair), goiter
- Dysmorphic features – palate, ear placement, size / shape of hands and feet
- Hands – palmar creases, clinodactaly
- Chest – widely spaced nipples, pectus excavatum or carinatum, breast development
- Genitourinary – accurate Tanner staging
Growth charts are very helpful for assessing growth velocity, including weight and height, and comparison to the mid-parental height.
- Is growth truly delayed? Use mid-parental height growth potential prediction and determine appropriate normal range
- When did growth delay begin?
- Intrauterine growth restriction (IUGR) vs. Birth related causes vs. postnatal causes
- Is height growth chart normal?
- Less than Age 2: shifts across lines are normal
- Age 2-13: shifts across 2 growth chart lines are abnormal
- Is Weight for Height normal?
- Short and obese: hormone deficiency, syndrome
- Tall and obese: exogenous obesity
- Short and thin: malnutrition, malabsorption, systemic disease, constitutional delay
- Indicators of collagen bone disease:
- Abnormal arm span
- Abnormal upper to lower body ratio
- Disproportionate shortness
Bone Age determination. Skeletal or bone age is usually determined by assessing the radiographic appearance of the bones in the hand and wrist and compared to standards. Bone age provides a more accurate assessment of projected height than dose chronological age.
Urinalysis, CBC, ESR, LFT, serum calcium, serum iron, serum phosphorus, alkaline phosphatase
- To assess for Gluten Sensitive Enteropathy (celiac disease): tissue transglutaminase titres (TTG)
- To assess for Cystic Fibrosis: Sweat Chloride
- To assess for Growth Hormone deficiency: IGF-1, IGF-1 binding protein 3
- To assess for Hypothyroidism: Thyroid stimulating hormone (TSH), Free T4
- To assess for chromosomal abnormalities: Karyotype
Short stature is common and is defined as height less than 2 standard deviations below the mean for children of the same sex and chronological age. There are many variations of growth and accurate serial measurements of a child’s weight and height to determine growth velocity are crucial to diagnosing the underlying cause of the child’s short stature.
Causes include genetic / chromosomal abnormality, transplacental infectious disease, malnutrition, hypoxia, toxins (alcohol, nicotine, recreational drugs), medications
Birth related causes of growth delay:
Causes include birth asphyxia, birth trauma, hypoglycemia, prolonged neonatal jaundice, panhypopituitarism
Postnatal causes of growth delay:
Causes include child neglect, child abuse, insufficient caloric intake (ex. choanal atresia, cleft palate), defects in food assimilation (ex Celiac Disease, Liver disease, allergies), excessive loss of ingested calories (ex. chronic diarrhea, gastroesophageal reflux), increased energy requirements (malignancy, heart disease, renal disease, hyperthyroidism)
Rose SR, Vogiatzi, MG, Copeland KC. A General Pediatric Approach to Evaluating a Short Child. Pediatrics In Review 2005;26(11):410-9.
Moses S. Delayed Growth. FamilyPracticeNotebook.com. Accessed August 15, 2007. http://www.fpnotebook.com/END48.htm.
Rogol AD. Diagnostic approach to short stature. UpToDate. Accessed August 15, 2007. http://patients.uptodate.com/topic.asp?file=pediendo/2375.
Writer: Annie Chou
Edited: Anne Marie Jekyll, Pediatric Resident