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. In some cases, disproportionate dwarfism may be suspected during a prenatal ultrasound if very short limbs disproportionate to the trunk are noted.

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

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The goal of treatment is to maximize functioning and independence. Most dwarfism treatments don't increase stature but may correct or relieve problems caused by complications.

Surgical treatments

Surgical procedures that may correct problems in people with disproportionate dwarfism include:

  • Correcting the direction in which bones are growing
  • Stabilizing and correcting the shape of the spine
  • Increasing the size of the opening in bones of the spine (vertebrae) to alleviate pressure on the spinal cord
  • Placing a shunt to remove excess fluid around the brain (hydrocephalus), if it occurs

Hormone therapy

For individuals with dwarfism due to growth hormone deficiency, treatment with injections of a synthetic version of the hormone may increase final height. In most cases, children receive daily injections for several years until they reach a maximum adult height — often within the average adult range for their family.

Treatment may continue throughout the teen years and early adulthood to ensure adult maturation, such as appropriate gain in muscle or fat. Some individuals may need lifelong therapy. The treatment may be supplemented with other related hormones if they are also deficient.

Treatment for girls with Turner syndrome also requires estrogen and related hormone therapy in order for them to begin puberty and achieve adult sexual development. Estrogen replacement therapy usually continues throughout life until women with Turner syndrome reach the average age of menopause.

Growth hormone supplementation for children with achondroplasia does not increase final adult height.

Ongoing health care

Regular checkups and ongoing care by a doctor familiar with dwarfism can improve quality of life. Because of the range of symptoms and complications, treatments are tailored to address problems as they occur, such as assessment and treatment for ear infections, spinal stenosis or sleep apnea.

Adults with dwarfism should continue to be monitored and treated for problems that occur throughout life.

Limb lengthening

Some people with dwarfism choose to undergo surgery called extended limb lengthening. This procedure is controversial for many people with dwarfism because, as with all surgeries, there are risks. Waiting to decide about limb lengthening until the person with dwarfism is old enough to participate in the decision is recommended because of the emotional and physical stress involved with multiple procedures.

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 head and neck support. Support your child's head and neck when he or she is seated by holding the head, neck and upper back in a safe and stable position. Padding can help to provide the right position and support.
  • 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.

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.

Preparing for your appointment

How you learn whether your child has dwarfism will depend on the degree to which it affects his or her development. Disproportionate dwarfism is usually apparent at birth or early in infancy. Proportionate dwarfism may not be diagnosed until later in childhood or the teenage years if your child isn't growing at an expected rate.

Well-baby visits and annual checkups

It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for your child's doctor to track growth, note delays in expected growth and identify other problems in physical development.

Questions your child's doctor may ask include:

  • What concerns do you have about your child's growth or development?
  • How well does he or she eat?
  • Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
  • Are other members of the family very short, or have others experienced growth delays?
  • Do you have your child's height marked on a measuring chart that you brought with you?
  • Do you have photographs of your child at various ages that you brought with you?

Talking to your doctor about dwarfism

If your family doctor or pediatrician believes that your child exhibits signs of dwarfism, you may want to discuss these questions:

  • What diagnostic tests will be needed?
  • When will we learn the results of the tests?
  • What specialists will we need to see?
  • How will you screen for disorders or complications that are commonly associated with the type of dwarfism affecting my child?
  • How will you monitor my child's health and development?
  • Can you suggest educational materials and local support services for dwarfism?

Preparing and anticipating questions will help you make the most of your appointment time.

Aug. 17, 2018
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  12. Growth hormone deficiency in children (pituitary dwarfism). Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/growth-hormone-deficiency-in-children. Accessed May 14, 2018.
  13. Osteochondrodysplasias (osteochondrodysplastic dwarfism). Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/osteochondrodysplasias-osteochondrodysplastic-dwarfism. Accessed May 14, 2018.
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