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Tests and diagnosis
By Mayo Clinic staffYour pediatrician will examine a number of factors in order to assess your child's growth and determine if he or she has a dwarfism-related disorder. For some assessments, your pediatrician may refer you to other doctors, such as pediatricians specializing in bone abnormalities (orthopedics), hormone dysfunction (endocrinology) or inherited conditions (genetics). Diagnostic tests may include the following:
- Measurements. A regular part of a well-baby medical examination is the measurement of height, weight and head circumference. At each visit, your pediatrician will plot these measurements on a chart, which indicates the percentile ranking for each measurement and expected growth in the future. This information 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 over a period of several months.
- Appearance. Many distinct facial and skeletal features are associated with each of several dwarfism disorders. Your child's appearance also may assist your pediatrician in making a diagnosis.
- Imaging technology. Your doctor may order radiographic 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 he or she will order special laboratory tests that assess the state of 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. Therefore, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care. This team will evolve as your child's needs change, and your family doctor or pediatrician will coordinate the care. Specialists in your care team may include the following professionals:
- Hormone disorder specialist (endocrinologist)
- Ear, nose and throat (ENT) specialist (otolaryngologist)
- Specialist in skeletal disorders (orthopedist)
- Heart specialist (cardiologist)
- Mental health provider, such as a psychologist or psychiatrist
- Nervous system abnormalities specialist (neurologist)
- Dental specialist in correcting problems with the alignment of teeth (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
References
- Dwarfism: Frequently asked questions. Little People of America. http://www.lpaonline.org/mc/page.do?sitePageId=44397&orgId=lpa. Accessed June 24, 2007.
- Carter EM, et al. Advances in understanding etiology of achondroplasia and review of management. Current Opinion in Pediatrics. 2007;19:32.
- Pseudoachondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=pseudoachondroplasia. Accessed July 8, 2009.
- Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasiacongenita. Accessed July 8, 2009.
- Diastrophic dysplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=diastrophicdysplasia. Accessed July 8, 2009.
- Achondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=achondroplasia. Accessed July 8, 2009.
- Hypochondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=hypochondroplasia. Accessed July 8, 2008.
- Trotter TL, et al. Health supervision for children with achondroplasia. Pediatrics. 2005;116:771.
- Horton WA, et al. Achondroplasia. The Lancet. 2007;370:162.
- Baujat G, et al. Achondroplasia. Best Practice & Research. Clinical Rheumatology. 2008;22:3.
- Hypopituitarism in children resulting in short stature. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec12/ch151/ch151e.html. Accessed July 15, 2009.
- Richmond EJ. Diagnosis of growth hormone deficiency in children. http://www.uptodate.com/home/index.html. Accessed June 13, 2009.
- Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2009.
- Turner Syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=turnersyndrome. Accessed July 8, 2008.
- Rogol AD. Causes of short stature. http://www.uptodate.com/home/index.html. Accessed July 8, 2009.
- Rogol AD. Diagnostic approach to short stature. http://www.uptodate.com/home/index.html. Accessed July 8, 2009.
- Attanasio AF, et al. Growth hormone and the transition from puberty into adulthood. Endocrinology and Metabolism Clinics of North America. 2007;36:187.
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed June 28, 2009.
