Conditions Dwarfism and Skeletal Dysplasias. How to schedule Need a second opinion? Call If this is a medical emergency, call Meet the Orthopedics and Sports Medicine team. Urgent consultations providers only : call or, toll-free, No pre-referral workup is required for most conditions. If you have already done a workup, please fax this information as well as relevant clinic notes and the NARF to or toll-free.
View our complete Orthopedics Referral Information. What are dwarfism and skeletal dysplasias? They may have: Short parents A lack of the hormones that help control growth A disease that affects the kidneys, heart or intestines A problem with nutrition or digestion that stops calcium and vitamin D from working properly in their bodies and promoting growth. Understand all the ways your child is affected. Provide comprehensive, expert care.
The experts you need are here The Skeletal Health Program brings together orthopedic doctors, endocrinologists , pulmonologists , geneticists , radiologists, nurses and nurse practitioners to care for your child.
Diagnosis of dwarfism and skeletal dysplasias Children usually come to us after their parents or doctors notice: They are not growing as quickly as other children their age. They develop scoliosis before age They break their bones more often than other children. Blood tests. We may take blood samples from your child to test for levels of hormones and other chemicals that can help us understand how your child is growing. MRI or CT scan. Because children may have other conditions that come along with skeletal dysplasias, we may ask your child to have an MRI magnetic resonance imaging scan or a CT computed tomography scan to check for other problems.
Sleep study. Often children with dysplasias have trouble breathing at night obstructive sleep apnea or central sleep apnea , so we may ask them to have a sleep study. Treatment of dwarfism and skeletal dysplasias Our goal is to help children, adolescents and adults with skeletal dysplasias function well and have a high quality of life.
Limb-straightening surgery In children with skeletal dysplasias, sometimes the arms and legs grow crooked. This belongs to a group of medicines called bisphosphonates. These medicines allow bone mass to increase by slowing normal bone breakdown. Pamidronate is used in children with low bone mineral density and fractures, including children with osteogenesis imperfecta. Read more about pamidronate PDF. Enzyme replacement therapy. Some types of skeletal dysplasia occur when the body is missing an enzyme or the enzyme does not work the way it should.
Medicine to provide enough working enzyme may reduce the effects of the disease. Vitamin D. Contact Us Contact Orthopedics and Sports Medicine at for an appointment, a second opinion or more information. Each has their own unique features and physical traits. In general, dwarfism caused by a skeletal dysplasia results in disproportionate short stature. This means that the limbs arms and legs and the trunk are not of the same proportion as average-height individuals.
By far the most common skeletal dysplasia is achondroplasia. This short-limb dwarfism happens in about 1 of every 25, babies born of all races and ethnic groups.
People with achondroplasia have a relatively long trunk and shortened arms and legs. This is most noticeable in the upper parts of their arms and legs called rhizomelic shortening. Diastrophic dysplasia is another short-limb dwarfism. It happens in about 1 in , births. People who have this type tend to have shortened forearms and calves called mesomelic shortening. They might also have:.
Most people with diastrophic dysplasia have joint changes that limit movement. People with diastrophic dysplasia often benefit from mobility aids , such as crutches, a scooter, or a wheelchair to get around. Spondyloepiphyseal dysplasias SED are short-trunk skeletal dysplasias that involve the spine and the end of the bones that make up the joints epiphyses. Along with achondroplasia and diastrophic dysplasia, they're one of the more common types of dwarfism. In one type of SED, the short trunk may not be noticed until the child is school age.
Other types are seen at birth. Most pregnant women have a prenatal ultrasound to measure the baby's growth at around 20 weeks. At that stage, features of achondroplasia aren't yet noticeable. Doctors sometimes suspect achondroplasia before birth if an ultrasound late in a pregnancy shows that a baby's arms and legs are shorter than average and the head is larger.
But many children with achondroplasia aren't diagnosed until after birth. Doctors can recognize some other types of skeletal dysplasia earlier in pregnancy.
Others aren't noticed until the first few months or years of life, when a child's growth slows. A health care provider may take X-rays after birth to check for bone changes.
Doctors also may use genetic testing before or after birth to confirm the diagnosis. Each condition that causes dwarfism has its own possible medical complications, which can change over time. But doctors can treat many of these. Children with dwarfism are cared for by doctors who specialize in orthopedics, neurosurgery, ENT, and pulmonology.
Some medical concerns are treated with surgery. These are done with anesthesia, which can be more of a risk for little people because of their smaller body size and airways. Their bodies may be a little different and it might take them a little longer, but they do figure out how to do it in their own time and in their own way.
A few extra pounds on a little person can be more of a problem than a few extra pounds on an average-size person. Extra weight causes harmful stress on the back and joints. Most of the complications that happen in people with dwarfism are physical in nature and do not affect their intellectual ability.
In fact, little people often develop a sense of ingenuity because they often have to find clever ways of doing things in the average-size world. Treatment often includes providing emotional support for people and families living with dwarfism. Short-statured people often have to interact with people unfamiliar with dwarfism who make assumptions about their capabilities without knowing enough about it or getting to know someone with it. For short-statured people, meeting others can sometimes be challenging, especially those who are unfamiliar with dwarfism.
Reviewed by: Angela L. Note: All information on KidsHealth is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. All rights reserved. Find a Doctor. About Us. Community Programs. California Kids Care. International Services. Video Visits: Telemedicine. Locations Main Campus. Satellite Locations. Emergency Care.
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