How is short stature defined?
Short stature is defined as height:
below the mean for their age and gender2
percentile2
SD=standard deviation.
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.
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
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
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
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
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
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