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. People with dwarfism are cared for by doctors who specialize in orthopedics, neurosurgery, ENT, and pulmonology. Some medical concerns are treated with surgery. Their heads are usually larger than average, with a prominent forehead. Their fingers are typically short. Adults with achondroplasia can develop a sway of the lower back, and some have bowed legs.
The average height for an adult with achondroplasia is a little over 4 feet. Diastrophic dysplasia occurs in about 1 of every , births. People with diastrophic dwarfism have short calves and forearms and progressive curvature of the spine.
Most diastrophic dwarfs have joint differences, which limit movement. That, coupled with a severe curvature of the spine, can make it difficult for people with diastrophic dwarfism to walk distances, especially when they get older. Some people may need to use crutches, a scooter, or a wheelchair to get around.
Spondyloepiphyseal dysplasias are a group of rare genetic disorders that affect bone growth and can result in dwarfism. They are most commonly referred to as SED. This interferes with the normal development of bone and connective tissue.
In general, people with SED have a short torso, neck, and limbs, but average-sized hands and feet. Individuals with SED also can have curvature of the spine that can progress during childhood and can lead to breathing problems. Differences in the neck bones also can lead to spinal cord damage for some, if not monitored and treated appropriately. People with SED also may develop reduced joint mobility and arthritis early in life.
So why are people born with dwarfism? In fact, children with achondroplasia are often born to average-size parents. Doctors can usually treat these cases in childhood. Doctors are able to diagnose most cases of achondroplasia even before birth by doing an ultrasound in the later stages of pregnancy. A female inherits an X chromosome from each parent. A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.
The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.
Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown. Complications of dwarfism-related disorders can vary greatly, but some complications are common to a number of conditions.
The characteristic features of the skull, spine and limbs shared by most forms of disproportionate dwarfism result in some common problems:. With proportionate dwarfism, problems in growth and development often result in complications with poorly developed organs.
For example, heart problems that often occur with Turner syndrome can have a significant effect on health. An absence of sexual maturation associated with growth hormone deficiency or Turner syndrome affects both physical development and social functioning.
Women with disproportionate dwarfism may develop respiratory problems during pregnancy. A C-section cesarean delivery is almost always necessary because the size and shape of the pelvis doesn't allow for successful vaginal delivery. Most people with dwarfism prefer not to be labeled by a condition. However, some people may refer to themselves as dwarfs, little people or people of short stature. The word "midget" is generally considered an offensive term. People of average height may have misconceptions about people with dwarfism.
And the portrayal of people with dwarfism in modern movies often includes stereotypes. Misconceptions can impact a person's self-esteem and limit opportunities for success in school or employment. Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates.
Because dwarfism is relatively uncommon, children may feel isolated from their peers. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
This content does not have an English version. Restricted growth may be diagnosed before a child is born, soon afterwards, or when growth problems become more obvious as they get older. Medicine is injected into a vein or muscle to cause an increase in growth hormone levels in the blood. A lower than normal level indicates a deficiency in growth hormone. A brain scan will be needed to look at the pituitary gland which produces growth hormone if blood tests show low levels of growth hormone.
If one or both parents have a family history of a condition that causes short stature, their baby can be tested for this during pregnancy prenatal diagnosis. Read more about screening tests in pregnancy.
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