Short Stature: Advice for Referrers

Warning

Short stature is defined as any child who has a height below the 0.4th centile on a growth chart or less than 2 standard deviations below the mean for gender and age.

The majority of cases are variation of normal physiological growth such as familial short stature, constitutional delay and idiopathic short stature. A single point on a growth chart is not definitive of short stature. As a result, previous growth data and serial measurements should be plotted.

Pathological causes of short stature include genetic syndromes (Prader-Willi syndrome, Turner syndrome, Noonan syndrome), chronic diseases, and endocrine pathology.

Children’s whose heights fall within their expected adult height, and who are well, do not need further investigation.

A child’s mean expected adult height is calculated as follows:

Boy: The mean of the parents’ heights plus 7 cm.

Girl: The mean of the parents’ heights minus 7 cm.

Information to Include - History

  • Antenatal history- maternal health, medications, smoking
  • Birth history- abnormalities of foetal growth, gestational age, birth weight, perinatal complications
  • Symptoms of chronic disease including diarrhoea, abdominal pain (inflammatory bowel disease, coeliac disease), headaches, visual disturbance, fatigue, uncontrolled asthma, or concerns of a genetic disorder (Turner, Prader-Willi, Noonan, Russel-Silver)
  • Medications- including steroids (Inhaled/oral therapy - length and dose of treatment)
  • Nutrition- Is diet intake appropriate for adequate growth?
  • Development and Social history- any concerns about psychosocial deprivation
  • Signs of puberty
  • Previous height measurements. Assess whether the child is petite but has been growing consistently, whether there is recent growth faltering, or whether the growth has been stunted for some time
  • Family history of short stature or genetic concerns
  • Parents’ and siblings’ heights and ages of pubertal onset

Information to Include - Examination

  • Child’s current weight, height, and previous weight and height measurements to assess growth velocity, if available
  • Disproportionate signs (skeletal disproportion)
  • Dysmorphic features
  • Signs suggestive of chronic disease - anaemia, reduced fat stores, signs of thyroid disease, visual field defects, high blood pressure
  • If confident to perform, document pubertal staging

Suggestions for management whilst waiting for outpatient appointment

  1. If it is possible then the following baseline investigations would be useful: Full blood count; ESR; CRP; electrolytes; Bone biochemistry (Ca/Phosphate/ALP); Urine culture and dipstick; TSH/freeT4; Ferritin, Coeliac screen
  2. Measure height at 4 monthly intervals to assess height velocity
  3. If nutrition is inadequate, refer to dietitian for guidance on nutritional intake. Keep a diary recording food intake (types and amounts) and mealtime issues (for example, child’s behaviour) to help with management strategies and assess progress
  4. It would be helpful for the child to have their eyes checked by an optician prior to their appointment (including accurate assessment of visual fields)

Useful resources for Parents

It is important to recognize the emotional impact of short stature on parents, carers and children/young people. Good communication in these cases is important.

Useful resources for Health Professionals

Cheetham T, Davies JH. Investigation and managmenet of short stature.  Archives of Disease in Childhood 2014;99:767-771 

Editorial Information

Last reviewed: 25/11/2024

Next review date: 30/11/2029

Author(s): Dr Nike Osifodunrin Consultant Medical Paediatrics; Dr Antoinette Rolle.

Approved By: Medical Paediatrics