Dwarfism

Dwarfism is short stature condition that is the result of a genetic mutation. People are born with the mutation, and anyone under the height of 4 feet, 10 inches is considered a dwarf. There are different types of dwarfism: disproportionate dwarfism and proportionate dwarfism. The symptoms can vary slightly, but both types describe a short stature condition.

Risk Factors for Dwarfism 

Although a random mutation causes dwarfism, certain risk factors can contribute to mutation and dwarfism. Those risk factors include:

A child who has a parent or parents with achondroplasia dwarfism

Children with parents that have a mutated FGFR3 gene

Advanced paternal age causing mutations

Causes of Dwarfism

Dwarfism is caused by a gene mutation. It can occur in either the sperm or the egg and is usually a random mutation. Certain causes and diseases associated with dwarfism include:

Achondroplasia

Turner syndrome

Growth hormone deficiency

Poor nutrition

Dwarfism Symptoms

The symptoms of dwarfism are usually apparent at birth in cases of disproportionate dwarfism. Proportionate dwarfism can be harder to diagnose as the symptoms are less obvious.

Disproportionate Dwarfism Symptoms

An average-size trunk

Short arms and legs with particularly short upper arms and upper legs

Short fingers, often with a wide separation between the middle and ring fingers

Limited mobility at the elbows

A disproportionately large head with a prominent forehead and a flattened bridge of the nose

Progressive development of bowed legs

Progressive development of swayed lower back

An adult height around 4 feet (122 cm)

Proportionate Dwarfism Symptoms

Height below the third percentile on standard pediatric growth charts

Growth rate slower than expected for age

Delayed or no sexual development during the teen years

Diagnosis of Dwarfism

Doctors are often able to diagnose disproportionate dwarfism with an ultrasound or at birth. Proportionate dwarfism is a little harder to diagnose. Doctors use a variety of tools and tests to confirm both dwarfism diagnoses. Those can include:

Measurements

Imaging testing

Genetic tests

Family history

Hormone tests

Treatment for Dwarfism

Treatment is focused on helping the patient to be mobile and independent. There is no cure or treatment that improves dwarfism, and most people who have it don’t see it as a disability. They learn to adapt and can live normal lives.  Some people who suffer from dwarfism may also require treatment for complications related to dwarfism. Common treatments include:

Surgery

Hormone therapy

Limb lengthening

Regular checkups

Prognosis for Dwarfism

The prognosis for someone with dwarfism is good, and most people are able to live normal lives. Many people do need to make changes to their homes and vehicles so that they are able to operate and use them more easily. Some people do suffer from health problems and complications related to dwarfism and may require ongoing treatment and care.

Complications of Dwarfism

There are some complications that come with dwarfism. Many people who have dwarfism do not experience any complications, but others can suffer from numerous and severe issues related to the condition. Some common complications include:

Bowed legs

Arthritis

Progressive hunching of the back

Narrowed channel in the lower spine

Pressure on the spinal cord

Pressure at the base of the skull