At OIC, your child will receive world-class skeletal dysplasia treatment from award-winning doctors in pediatric orthopedics. Through our team of focused experts and state-of-the-art technology we are dedicated to ensuring the children of our community live happy, healthy lives.
Skeletal dysplasias, also known as Dwarfism, are a group of more than 300 genetic disorders that affect bone development, neurological function and cartilage growth, usually causing short stature. A person is considered to have dwarfism when their adult height is 4 feet 10 inches or less. The condition affects 1 in 5,000 children.
In general, the disorders are divided into two categories:
Proportionate dwarfism is when a person’s body parts are in proportion but shortened. This is often due to metabolic and hormonal disorders such as a deficiency in the human growth hormone.
A person may have a head, limbs, and trunk that are short but still proportionate to one another. This type of dwarfism can affect other parts of the body, like the heart. Proportionate dwarfism is often caused by another medical condition that limits growth and development. One of the most common causes is growth hormone deficiency—a condition where a child’s pituitary gland doesn’t produce enough growth hormone to help the body grow.
Disproportionate dwarfism is when a person has body parts that are not proportionate to each other—they can be several different sizes. In most cases, the trunk is average-sized and the limbs are short. However, it’s also possible that a person could have a very short trunk, and limbs that are technically “short” but appear large compared to the trunk.
The most common types and symptoms of disproportionate dwarfism:
Achondroplasia is the most common type of dwarfism, causing about 70% of cases. It occurs when cartilage – the tissue that makes up most of a fetus’s skeleton during development – doesn’t convert to bone the way normal cartilage does resulting in a usually normal torso and shortened limbs.
Spondyloepiphyseal Dysplasia Congenita (SEDc)
SEDc is a rare genetic disorder that results in short stature and skeletal abnormalities that primarily affect the spine and long bones of the arms and legs.
Diastrophic dysplasia is a disorder that affects the body’s ability to form cartilage and bone development and results in short stature, joint and hand deformities, and abnormal curving of the spine.
Pseudoachondroplasia is a rare form of dwarfism that affects bone grown. Children with pseudoachondroplasia have a normal head size, facial features and intelligence level. However, they are small in stature.
Hypochondroplasia is a form of short-limbed dwarfism. Like other forms of dwarfism, it occurs when a fetus is still in the womb and there is a problem related to the cartilage converting into bone. It is considered a milder form of dwarfism.
Turner syndrome is a type of dwarfism that only affects females. In addition to being short in stature, girls with Turner syndrome often have heart defects and their ovaries do not develop normally. Often girls with Turner syndrome grow normally, then around age 5 their growth slows and their short stature becomes noticeable.
Skeletal dysplasia has many signs and symptoms, including:
Physical appearance is often enough to alert a doctor to your child’s dwarfism. If our doctors suspect dwarfism, they may run a number of tests:
Treatment for disproportionate dwarfism usually doesn’t make a child taller. However, there are treatments for complications caused by dwarfism. These may include:
It takes a team of specialists to ensure a child’s skeletal dysplasia and dwarfism is under control and that they have the best chance to live a full, active life. Our team of experts is led by the following specialist:
Based on your child’s condition your team could include:
From bringing the right paperwork to driving directions, find out what you need to know for your visit.