Short stature Short stature

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Professor David Sillence
Head, Connective Tissue Dysplasia Clinic
Professor of Medical Genetics
Academic Department of Medical Genetics
The Children’s Hospital at Westmead

Ms Verity Pacey
Paediatric Physiotherapist
Department of Physiotherapy
Senior Physiotherapist,
Connective Tissue Dysplasia Management Service
The Children’s Hospital at Westmead

Dr Jenny Ault
Consultant Paediatric Rehabilitation Specialist
Connective Tissue Dysplasia Management Service
Department of Paediatric Rehabilitation
The Children’s Hospital at Westmead,
NSW Australia

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What is short stature?

Teachers and other school staff will be very aware of the wide range of heights of school children of the same age. Height is genetic and most children’s height is relative to their family and/or their ethnic group. Some students have delayed maturation in their skeleton (known as constitutional short stature) and these children often have their growth spurt a little later, in their secondary school years. There is no medical treatment needed for most children with constitutional short stature who will grow at their own rate.

Children with short stature due to some underlying disorder (pathological short stature) are at or below the third percentile in height for age. (See NSW Health - Child Personal Health Record: Growth Charts)

Generalised severe short stature is often called ‘dwarfing’ – an imprecise term.

There are two broad groups:

  1. Proportionate short stature (short arms, legs and trunk)

  2. Disproportionate short stature (short arms and/or legs compared with their trunk height, or a short trunk compared with their limb lengths).

The causes of proportionate short stature include hormonal disorders, chromosomal disorders (the chromosomes represent the packaging of genetic material), chronic illness in childhood and gastrointestinal disorders.

Disproportionate short stature usually involves a disorder of bone growth, either a localised disorder such as a limb deficiency or a generalised disorder (dysplasia) of growth of the skeleton. There are over 350 different skeletal dysplasias and many result in disproportionate short stature. All are heritable (ie either inherited, or capable of being inherited).

Three disorders are relatively common and can serve as prototypes for other disorders leading to short stature. These are Turner syndrome, achondroplasia/hypochondroplasia, and spondylo-epiphyseal dysplasias.


Turner syndrome

Turner syndrome only occurs in girls and is characterised by short stature, with neck webbing, low posterior hairline and the appearance of a relatively broad chest.

For more information Download: Turner syndrome: school issues (.pdf 65kB) to learn more.

Achondroplasia and hypochondroplasia

Achondroplasia and hypochondroplasia are the most common types of genetic short stature with relatively short limbs, including short fingers and feet. The two disorders are due to mutations affecting growth factor receptors, though children with hypochondroplasia are often a little taller.

For more information Download: Achondroplasia and hypochondroplasia: school issues (.pdf 60kB) to learn more.

Epiphyseal, spondylo-epiphyseal and other spondylo-dysplasias

The epiphyseal dysplasias are an important group of bone dysplasias in which there is a weakness in the ends of the long bones at the joints, affecting especially hips, shoulders, knees and hands. They may be generalised, or manifest mostly in the large joints like hips and shoulders.

For more information Download: Epiphyseal and other spondylo-dysplasias: school issues (.pdf 61kB) to learn more.

Medications used in treatment

It would be extremely unusual for medication to be taken during school years for short stature alone. For most disorders associated with short stature, there is no specific drug therapy.

In proven growth hormone deficiency, therapy will improve or correct the short stature. Children on growth hormone usually receive a once-daily injection, six treatments per week.

Sleep apnoea

Students with achondroplasia/hypochondroplasia have a higher incidence of sleep apnoea (disordered breathing during sleep), even as young children.

This may show as restlessness in the classroom, poor concentration, or poor learning, rather than as daytime sleepiness. Many students need adeno-tonsillectomy and some need mechanical assistance (CPAP or BiPAP) with breathing during sleep.

Glue ear

There is a high risk of glue ear with fluctuating hearing loss affecting concentration and learning. Suspected hearing loss in a student should be discussed with the parent/carer, so that assessment and, if necessary, treatment can be sought.

Vision difficulties

Squint (turned eye) occurs more commonly than in other students but might only show when the student is concentrating hard or is tired. It should always be investigated by an ophthalmologist. Other vision difficulties such as short sightedness or long sightedness occur in the same frequencies as in the general peer group.

Children with achondroplasia/hypochondroplasia have few restrictions with sport and physical activities except that they should not participate in:

  • sports which might involve recurrent spinal jarring, eg somersaults, tumbling, trampolining, hula hooping

  • body contact sports, eg netball, skateboard riding, rugby, ice skating and roller skating.

In NSW public schools see Guidelines for Specific Sports and Physical Activities

This is because all students with achondroplasia/hypochondroplasia have a very narrow spinal canal.

In addition, owing to looseness of the knee ligaments, and the different alignment of the knee and ankle joints, there may be a variable degree of discomfort with long periods of standing or walking. Some students need to wear jogging shoes rather than leather shoes, as routine school uniforms as well as for sport and dancing programs.