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:
Sept. 11, 2014
- 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?
- Bang GM, et al. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2013;17:100.
- Frequently asked questions. Little People of America. http://www.lpaonline.org/faq-. Accessed Aug. 3, 2014.
- Achondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/achondroplasia. Accessed Aug. 5, 2014.
- Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed Aug. 5, 2014.
- Rogol AD. Causes of short stature. http://www.uptodate.com/home. Accessed Aug. 5, 2014.
- Isolated growth hormone deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency. Accessed Aug. 5, 2014.
- Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed Aug. 5, 2014.
- Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed Aug. 5, 2014.
- Pauli RM. Achondroplasia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed Aug. 5, 2014.
- Wright MJ, et al. Clinical management of achondroplasia. Archives of Diseases in Childhood. 2012;97:129.
- Ireland PJ, et al. Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics. 2014;7:117.
- Hypopituitarism in children resulting in short stature. The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/pituitary_disorders/hypopituitarism_in_children_resulting_in_short_stature.html?qt=&sc=&alt=. Accessed Aug. 5, 2014.
- Deyle DR (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 25, 2014.
- Bodensteiner JB (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 29, 2014.