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PAEDIATRICS · OUTPATIENT CLINIC

Short stature

A calm, structured way to work up the short child in clinic - sort the common normal variants from the few who need treating, and know what to organise before you refer.

IS IT ACTUALLY SHORT?

Defining short stature

Short stature is a height below the 2nd centile (about -2 SD) for age and sex, but the single point matters less than the pattern. Plot serially, correct for prematurity, and always compare to the parents.

Below the 2nd centile

Height under the 2nd centile (roughly -2 SD) on the right chart for age and sex. Use the WHO chart 0-2y, then your local growth chart.

Crossing centiles

A fall through the centile lines over time is more concerning than a stable low line. A child who was on the 50th and is now on the 3rd needs explaining.

Below the target

Compare the child to their mid-parental (genetic) height. A child tracking well below the family target range needs a reason.

Proportionate?

Check body proportions. Short limbs or a short back (disproportion) points to a skeletal cause and changes the workup.

A healthy child growing steadily along the 3rd centile, on target for short parents, is usually normal. A child crossing centiles downward is not.

GET THE NUMBERS RIGHT

Measure it properly

Most 'abnormal' growth turns out to be a measurement or plotting error. Nail the basics before investigating.

Accurate height

Wall-mounted stadiometer, shoes off, heels together, eyes in the Frankfort plane. Under 2y measure length lying down. Plot on the same chart each visit.

Mid-parental height

Boys = (mother + father + 13 cm) / 2. Girls = (mother + father - 13 cm) / 2. The target range is roughly +/- 8.5 cm around that.

Growth velocity

Two accurate heights at least 6 months apart. A slow velocity (crossing centiles) is the single strongest pointer to a pathological cause.

The whole picture

Plot weight and head circumference and calculate BMI. Weight faltering before height suggests a nutritional or gut cause; height faltering first suggests endocrine.

Weight-then-height faltering points to gut or nutrition. Height faltering with a preserved weight points to endocrine causes (thyroid, growth hormone).

WHAT THE CURVE TELLS YOU

The pattern sorts the cause

The growth pattern, the proportions and the bone age separate the common normal variants from the few children who need treatment.

Familial short stature

Short, healthy child of short parents. Normal velocity, tracks a low centile, on target for the family, bone age equal to chronological age. The commonest cause.

Constitutional delay

The late bloomer. Delayed bone age and delayed puberty, often a family history. Short now, but normal adult height. Commoner in boys.

Proportionate + slow

The pattern that needs investigating: endocrine (growth hormone deficiency, hypothyroidism, Cushing), chronic disease (coeliac, IBD, renal), Turner syndrome, or SGA without catch-up.

Disproportionate

Short limbs or a short back. Points to a skeletal dysplasia or rickets. Measure sitting height and arm span.

PatternVelocityBone agePubertyAdult height
Familial short statureNormalEqual to ageNormal timingShort, on target
Constitutional delayNormal or slightly lowDelayedDelayedNormal
GH deficiency / hypothyroidReducedDelayedDelayedReduced if untreated
Turner syndromeReducedVariableAbsent or incompleteReduced without treatment
Consider Turner syndrome in every girl with unexplained short stature - check a karyotype even if she looks unremarkable.

DO NOT MISS

Growth failure that needs action

These features move a child from 'watch and reassure' to 'investigate and refer'.

Falling velocity

Clearly crossing centiles downward, or a height well below the mid-parental target. This is growth failure until proven otherwise.

Very short

Height below -3 SD, or a large gap from the family target, needs investigating regardless of how well the child looks.

Dysmorphism or Turner

Dysmorphic features, or any girl with unexplained short stature (webbed neck, widely spaced nipples; oedema may be absent). Check a karyotype.

Neuro or systemic clues

Headache, visual field loss or vomiting (intracranial cause of GH deficiency); or GI symptoms, pallor and fatigue (coeliac, IBD, chronic disease).

Short stature plus headaches or visual symptoms is a red flag for an intracranial lesion - do not sit on it.

FROM THE CLINIC

First-line workup

What you can organise from an outpatient clinic before, or alongside, referral. Tailor it to the history and examination.

TestWhy
Bone age (left wrist X-ray)Delayed in constitutional delay and endocrine causes; equal to age in familial short stature
FBC, ESR / CRPChronic disease, inflammation, anaemia
U&E, creatinine, LFTsRenal or hepatic chronic disease
Calcium, phosphate, ALPRickets and metabolic bone disease
TFTs (TSH, free T4)Hypothyroidism
Coeliac serology (tTG-IgA + total IgA)Coeliac disease is common and treatable
IGF-1 (with or without IGFBP-3)A screening pointer to growth hormone status; interpret for age
KaryotypeTurner syndrome in every girl

Do not bother with

A random growth hormone level is unhelpful - GH is secreted in pulses. GH status needs formal stimulation testing, arranged by endocrinology.

Second-line (specialist)

GH stimulation testing, a pituitary MRI and targeted genetics are organised by paediatric endocrinology, not from general clinic.

Always send coeliac serology with a total IgA - a low total IgA makes the tTG falsely negative and misses the diagnosis.

ESCALATE

When to refer

Two clean pathways cover most children.

To general paediatrics

The short but well child, likely a normal variant, when the family want review or the diagnosis is unclear - for assessment and serial growth.

To paediatric endocrinology

Growth failure (falling velocity), height below -3 SD, disproportion, Turner features, abnormal first-line bloods, or any red flag above.

When in doubt, plot two more accurate points 6 months apart - the velocity usually makes the decision for you.

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