- Clinical science
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 97th percentile on the normal growth curve for age and sex.
- Most tall children do not have a pathological cause.
Evaluation of growth
- Assess milestones (exclude developmental delay)
- Determine midparental height
- Physical examination
- Further diagnostic measures (if a pathological cause is suspected)
|Etiology of tall stature|
|Nonpathological||Familial/Constitutional tall stature|
|(growth hormone excess)|
|Sotos syndrome (cerebral gigantism)|
- Definition: : rare disorder characterized by abnormal linear growth during childhood due to growth hormone excess while the epiphyseal growth plates are still open
- Risk factors (associated with an ↑ incidence of pituitary tumors)
- Clinical features
- Definition: congenital disorder of growth with a predisposition to tumor development
- Etiology: WT2 gene mutation on chromosome 11 (∼ 80% of cases)
- Macrosomia; , omphalocele (i.e., exomphalos)
- Macroglossia, organ enlargement (heart, liver, kidney, etc.)
- Hemihypertrophy (hemihyperplasia): One side or a part of one side of the body is larger than the other.
- Features of neonatal hypoglycemia : irritability, intellectual disability
- Genitourinary abnormalities
- Facies: midface hypoplasia, infraorbital and earlobe creases
- Cleft palate (rare)
- Frequent feedings to maintain sufficient blood glucose levels
- Resection of embryonal tumors
Sotos syndrome (cerebral gigantism) 
- Epidemiology: 1/10,000–14,000 newborns 
- Etiology: autosomal dominant mutation in the NSD1 gene on chromosome 5 
- Tall stature
- High forehead
- Elongated face
- Pointed chin
- Receding hairline
- Psychomotor retardation
- Delays in achieving milestones (e.g., walking, talking, clumsiness)
- Usually clinical
- DNA studies (5q35 microdeletions and partial NSD1 deletions in 10–15% of cases)
- Prenatal diagnosis possible
- Only symptomatic treatment is possible.
- Multiprofessional approach
- Normal growth rate from 3–5 years of age (only moderately increased adult height)
- Permanent cognitive-developmental impairments are common.