Skeletal dysplasias

Overview

Growth in children is a sensitive indicator of health, nutrition and genetic background. Growth is regulated by several factors, and any fault in these factors can lead to a growth impairment. Skeletal dysplasias are a group of anomalies occurring from birth, which affect cartilage and/or bone growth. Skeletal dysplasias can occur in approximately 1 in 5,000 births.

Cause

Skeletal dysplasias are regulated by several hormonal and genetic factors, and any fault in these factors can lead to impairment of growth. Skeletal dysplasias often lead to neurological issues and problems with the bones and cartilage that may not seen in other growth disorders.

Symptoms

Skeletal dysplasias are usually characterised by short stature which can be disproportionate, meaning some parts of the body may grow at a normal rate while other parts have a reduced growth rate; for example the legs and arms may be more affected than the trunk (chest neck and stomach area). This disproportionate growth in children may lead to a number of musculoskeletal, neurological, heart, respiratory, ear nose and throat, plus dental issues, which can lead to special care needs.

Diagnosis

Like other growth disorders, skeletal dysplasias can be difficult to diagnose due to the large number of different factors to consider; however, short stature provides the first clue in diagnosis. Health care professionals can sometimes detect skeletal dysplasias even before birth or shortly after. Other tests used to help confirm a diagnosis include X-rays, MRIs and CT scans, to precisely examine bones. Genetic testing from a blood sample can also be performed.

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

Growth hormone deficiency (GHD)

When a child is diagnosed with GHD, it means that their body is not producing enough growth hormone, so they are not growing the way they should. GHD affects about 1 in every 30,000 children per year.

Familial short stature

Children with familial short stature tend to fall at the lower extreme of the growth chart (below the 3rd percentile) and their growth is usually impacted by their parents’ heights. This does not tend to impact their overall health and their height is generally considered to be appropriate for their genetic potential based on their parents’ heights.