Bone Dysplasia (Dwarfism)

Also known as: bone dysplasia, skeletal dysplasia, achondroplasia

What is bone dysplasia (dwarfism)?

Dwarfism is a type of short stature. There are hundreds of different medical conditions (for example, short parents, lack of hormones, diseases that affect the kidneys or liver and others) that can affect ultimate size and/or the growth of an infant.

In general dwarfism can be divided into those conditions which cause some parts of the body to be small while other parts are normal (Disproportionate dwarfism) or where all parts of the body are small (Proportionate dwarfism).

The bone/cartilage abnormalities that lead to changes in the size and shape of the legs, arms, skull or trunk, are known as bone dysplasias. These conditions frequently cause shorter stature, or dwarfism. Achondroplasia is the most common type of bone dysplasia, though there are many many others.

What causes bone dysplasia (dwarfism)?

There are many different causes of dwarfism. Several different types of genetic mutations can cause bone dysplasia. Typically, the mutated gene is passed down from one or both parents; not infrequently (depending on the particular condition) affected children may have parents of average height, without a family history of bone dysplasia.

What are the symptoms of bone dysplasia (dwarfism)?

The most common symptom of dwarfism and bone dysplasia is the physical appearance, including shorter or different-sized legs, arms, skull and trunk. Some children may have joint pain, scoliosis, developmental delays, learning disabilities or other symptoms depending on the underlying disorder.

What are bone dysplasia (dwarfism) care options?

Treatment for dwarfism/bone dysplasia will vary widely based on the nature and severity of the condition. Some may grow taller, longer bones with hormone injections or bone-lengthening surgeries, though there are complications involved with these treatments. Others need care to help with pain or complications related to the disorder. 

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: October 15, 2020 09:03 AM

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