Idiopathic short stature (ISS)

Overview

ISS is a term used to cover a wide range of conditions that are associated with short stature. Idiopathic generally refers to a condition which arises spontaneously or for which the cause is unknown. These conditions are difficult to diagnose and are often caused by unknown genetic factors.

Cause

ISS can be caused by mutations to genes involved in the function of growth hormones and growth plate physiology; however, many causes are still unknown.

Symptoms

The symptoms of ISS can vary greatly. The main sign of ISS is reduced growth and short stature.

Diagnosis

To diagnose ISS, the healthcare professional will need to rule out other recognisable causes of short stature. This complex diagnosis includes a thorough history and physical examination, growth calculations, assessment of bone age, and eventually some laboratory investigations. In the future, as more cases of ISS are identified, we will understand more about the causes of the disorder and diagnosis may become easier.

Little girl typing numbers on calculator

Growth calculator

It is important to keep track of your child’s growth in order to identify if there is a problem early on. We recommend measuring your child every 6 months, which is now easier, with our simple to use growth calculator.

Male and female patients waiting in corridor of medical centre

Talking to your doctor about child growth

If you are concerned about your own or your child’s growth, you should speak to a doctor. This section will help you with what questions to ask, so that you can be prepared.

Related

Prader-Willi syndrome (PWS)

PWS is a rare genetic disorder in which a part of the brain known as the hypothalamus doesn't develop as expected. PWS is associated with a number of issues including short stature, difficulties with behavioural and social skills, and distinct facial features. PWS affects about 1 in 20,000 children.

Silver-Russell syndrome (SRS)

SRS or Russell-Silver Syndrome (RSS) as it is sometimes called, is a rare genetic growth disorder. Children are generally born smaller than expected with distinct facial features. Sometimes different parts of the body will grow at different rates. Children with SRS will not catch-up to normal height in the first 2 years of life, and will need treatment early on.