Signs and symptoms — other than short stature — vary considerably across the spectrum of disorders.
Most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs. In these disorders, the head is disproportionately large compared with the body.
Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus).
The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in the following:
- 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)
Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (SEDC). Signs may include:
- A very short trunk
- A short neck
- Shortened arms and legs
- Average-size hands and feet
- Broad, rounded chest
- Slightly flattened cheekbones
- Opening in the roof of the mouth (cleft palate)
- Hip deformities that result in thighbones turning inward
- A foot that's twisted or out of shape
- Instability of the neck bones
- Progressive hunching curvature of the upper spine
- Progressive development of swayed lower back
- Vision and hearing problems
- Arthritis and problems with joint movement
- Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)
Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. So the head, trunk and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth, many of them result in poor development of one or more body systems.
Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth. Signs include:
- 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
When to see a doctor
Signs and symptoms of disproportionate dwarfism are often present at birth or in early infancy. Proportionate dwarfism may not be immediately apparent. See your child's doctor if you have any concerns about your child's growth or overall development.
Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup.
About 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children.
Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. 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.
Growth hormone deficiency
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:
- Delays in motor skills development, such as sitting up, crawling and walking
- Frequent ear infections and risk of hearing loss
- Bowing of the legs
- Difficulty breathing during sleep (sleep apnea)
- Pressure on the spinal cord at the base of the skull
- Excess fluid around the brain (hydrocephalus)
- Crowded teeth
- Progressive severe hunching or swaying of the back with back pain or problems breathing
- Narrowing of the channel in the lower spine (spinal stenosis), resulting in pressure on the spinal cord and subsequent pain or numbness in the legs
- Weight gain that can further complicate problems with joints and the spine and place pressure on nerves
With proportionate dwarfism, problems in growth and development often result in complications with poorly developed organs. For example, heart problems often present in 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 or little people. 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.