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. 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