Dwarfism

Your pediatrician likely will look at several factors to learn about your child’s growth and find out whether your child has a dwarfism-related condition. Your pediatrician may send your child to doctors in other specialties such as endocrinology and genetics. In some cases, disproportionate dwarfism may be suspected during a prenatal ultrasound if very short limbs in relation 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 size. At each visit, your pediatrician plots these measurements on a chart to show your child’s current percentile ranking for each one. This is important for identifying growth that isn’t typical, such as delayed growth or a large head in relation to the rest of the body. If any trends in these charts are a concern, your child’s pediatrician may take measurements more often.
• Appearance. Many distinct facial and skeletal features are related to each of several dwarfism conditions. How your child looks also may help your pediatrician and geneticist make a diagnosis.
• Imaging technology. Your healthcare professional may order imaging studies, such as X-rays, because certain differences in the skull and skeleton can indicate which condition your child may have. Various imaging devices also may reveal delayed maturation of bones, as is the case when growth hormone levels are low. An MRI scan may show if the pituitary gland or hypothalamus is not typical.
• Genetic tests. Genetic tests are available for many genetic causes of dwarfism-related conditions. Your doctor may suggest a test to confirm the diagnosis. This test could help manage the condition and aid in family planning. For example, if your doctor thinks your daughter may have Turner syndrome, a special lab test may be done that looks at the X chromosomes in blood cells.
• Family history. Your pediatrician may ask about the height of your siblings, parents, grandparents or other blood relatives to find out whether the average range of height in your family includes short stature.
• Hormone tests. Your doctor may order tests that measure levels of growth hormone or other hormones that are critical for childhood growth and development.

Healthcare team

Some conditions that cause dwarfism can cause various problems with development and growth, as well as medical complications. Several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. This team may change as your child’s needs change. Your child’s pediatrician or family healthcare professional can coordinate the care.

Specialists in your care team may include:

• Hormone disorder specialist (endocrinologist).
• Ear, nose and throat (ENT) specialist (otolaryngologist).
• Specialist in skeletal disorders (orthopedist).
• Specialist in genetic disorders (medical geneticist).
• Heart specialist (cardiologist).
• Eye specialist (ophthalmologist).
• Mental health professional, such as a psychologist or psychiatrist.
• Specialist in conditions of the nervous system (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.