What is skeletal dysplasia?

Skeletal dysplasia is a term used to describe hundreds of genetic conditions that can affect a child’s growth, including the development of their bones, cartilage (joints), and other parts of the body.

The most common type of skeletal dysplasia is called achondroplasia, with other types including spondyloepiphyseal dysplasia congenita (SEDC), multiple epiphyseal dysplasia (MED), and pseudoachondroplasia. Other conditions include hip dysplasia and Legg-Calvé-Perthes disease. These are only a few of the hundreds of types of skeletal conditions that are diagnosed each year.

Infographic of DNA showing genetic skeletal dysplasia percentage

DID YOU KNOW?

Over 90% of skeletal dysplasia is genetic.

What are the symptoms of skeletal dysplasia?

The symptoms of skeletal dysplasia can vary based on the specific type. Because there are so many different types, you’ll find that many of the symptoms overlap.

Photo of child showing skeletal dysplasia symptoms including short stature and knock knees

Symptoms of skeletal dysplasia may include:

Short stature (child’s height is below average for their age)
Short trunk and neck
Short limbs with longer hands/feet
Joint stiffness
Legs that bow outward (bowlegs) or inward (knock knees)
Fragile bones
Developmental delays

How common is skeletal dysplasia?

About 1 in 5,000 babies are born with skeletal dysplasia.

When do symptoms appear?

In some children, symptoms of skeletal dysplasia may be visible in the womb or at birth. In others, the symptoms may not appear until later in childhood.

What causes skeletal dysplasia?

Skeletal dysplasia is most commonly caused by a change in a child’s genes (a mutation). Genes are a blueprint that determine health and development. Genes can play a big role in helping to identify the underlying cause of your child’s skeletal dysplasia. In fact, over 90% of skeletal dysplasia is genetic.