Overview

Dwarfism is short stature that results from a genetic or medical condition. Dwarfism is generally defined as an adult height of 4 feet 10 inches (147 centimeters) or less. The average adult height among people with dwarfism is 4 feet (122 cm).

Many different medical conditions cause dwarfism. In general, the disorders are divided into two broad categories:

• Disproportionate dwarfism. If body size is disproportionate, some parts of the body are small, and others are of average size or above-average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
• Proportionate dwarfism. A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body of average stature. Medical conditions present at birth or appearing in early childhood limit overall growth and development.

Some people prefer the term "short stature" rather than "dwarf" or "dwarfism." So it's important to be sensitive to the preference of someone who has this disorder. Short stature disorders do not include familial short stature — short height that's considered a normal variation with normal bone development.

Source: http://www.mayoclinic.com

Symptoms

Signs and symptoms — other than short stature — vary considerably across the spectrum of disorders.

Disproportionate dwarfism

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

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.

Source: http://www.mayoclinic.com

Causes

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.

Achondroplasia

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

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

Other causes of dwarfism include other genetic disorders, deficiencies in other hormones or poor nutrition. Sometimes the cause is unknown.

Source: http://www.mayoclinic.com

Diagnosis

Your pediatrician will likely examine a number of factors to assess your child's growth and determine whether he or she has a dwarfism-related disorder. Diagnostic tests may include:

• Measurements. A regular part of a well-baby medical exam is the measurement of height, weight and head circumference. At each visit, your pediatrician will plot these measurements on a chart to show your child's current percentile ranking for each one. This is important for identifying abnormal growth, such as delayed growth or a disproportionately large head. If any trends in these charts are a concern, your pediatrician may make more-frequent measurements.
• Appearance. Many distinct facial and skeletal features are associated with each of several dwarfism disorders. Your child's appearance also may help your pediatrician to make a diagnosis.
• Imaging technology. Your doctor may order imaging studies, such as X-rays, because certain abnormalities of the skull and skeleton can indicate which disorder your child may have. Various imaging devices may also reveal delayed maturation of bones, as is the case in growth hormone deficiency. A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormone function.
• Genetic tests. Genetic tests are available for many of the known causal genes of dwarfism-related disorders, but these tests often aren't necessary to make an accurate diagnosis. Your doctor is likely to suggest a test only to distinguish among possible diagnoses when other evidence is unclear or as a part of further family planning. If your pediatrician believes your daughter may have Turner syndrome, then a special lab test may be done that assesses the X chromosomes extracted from blood cells.
• Family history. Your pediatrician may take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
• Hormone tests. Your doctor may order tests that assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Health care team

A number of disorders causing dwarfism can cause a variety of developmental problems and medical complications. Several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. This team may evolve as your child's needs change, and your family doctor or pediatrician can coordinate the care.

Specialists in your care team may include:

• Hormone disorder specialist (endocrinologist)
• Ear, nose and throat (ENT) specialist
• Specialist in skeletal disorders (orthopedist)
• Specialist in genetic disorders (medical geneticist)
• Heart specialist (cardiologist)
• Eye specialist (ophthalmologist)
• Mental health provider, such as a psychologist or psychiatrist
• Nervous system abnormalities specialist (neurologist)
• Dental specialist in correcting problems with teeth alignment (orthodontist)
• Developmental therapist, who specializes in therapy to help your child develop age-appropriate behaviors, social skills and interpersonal skills
• Occupational therapist, who specializes in therapy to develop everyday skills and to use adaptive products that help with everyday activities

Source: http://www.mayoclinic.com

Complications

Complications of dwarfism-related disorders can vary greatly, but some complications are common to a number of conditions.

Disproportionate dwarfism

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
• Arthritis
• Weight gain that can further complicate problems with joints and the spine and place pressure on nerves

Proportionate dwarfism

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.

Pregnancy

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.

Public perceptions

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.

Lifestyle and home remedies

Talk with your pediatrician or a specialist about at-home care. Issues particularly critical for children with disproportionate dwarfism include:

• Car seats. Use an infant car seat with firm back and neck supports. Continue using a car seat in the rear-facing direction to the highest weight and height possible (and beyond the recommended age limit).
• Infant carriers and play equipment. Avoid infant devices — such as swings, umbrella strollers, carrying slings, jumper seats and backpack carriers — that don't support the neck or that curve the back into a C shape.
• Adequate support. Support your child's head and neck when he or she is seated.
• Complications. Monitor your child for signs of complications, such as ear infection or sleep apnea.
• Posture. Promote good posture by providing a pillow for the lower back and a footstool when your child is sitting.
• Healthy diet. Begin healthy eating habits early to avoid later problems with weight gain.
• Healthy activities. Encourage participation in appropriate recreational activities, such as swimming or bicycling, but avoid sports that involve collision or impact, such as football, diving or gymnastics.

Source: http://www.mayoclinic.com

Coping and support

If your child has dwarfism, you can take a number of steps to help him or her cope with challenges and function independently:

• Seek help. The nonprofit organization Little People of America provides social support, information about disorders, advocacy opportunities and resources. Many people with dwarfism stay actively involved in this organization throughout their lives.
• Modify your home. Make changes to your home, such as putting specially designed extensions on light switches, installing lower handrails in stairways and replacing doorknobs with levers. The Little People of America website provides links to companies that sell adaptive products, such as size-appropriate furniture and everyday household tools.
• Provide personal adaptive tools. Everyday activities and self-care can be a problem with limited arm reach and problems with dexterity. The Little People of America website provides links to companies that sell adaptive personal products and clothing. An occupational therapist also may be able to recommend appropriate tools for home and school use.
• Talk to educators. Talk to school personnel about what dwarfism is, how it affects your child, what needs your child may have in the classroom and how the school can help meet those needs.
• Talk about teasing. Encourage your child to talk to you about his or her feelings, and practice responses to insensitive questions and teasing. If your child tells you that bullying occurs in school, seek help from your child's teacher, principal or the school guidance counselor and ask for a copy of the school's policy on bullying.

Source: http://www.mayoclinic.com