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Causes
By Mayo Clinic staffMost dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg — rather than being in one of the parent's complete genetic makeup.
Achondroplasia
About 80 percent of people with achondroplasia are born to parents of average height. A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene. A person with the disorder may pass along either a mutated or normal copy to his or her own children.
Turner syndrome
Turner syndrome occurs because of a random deletion or severe alteration of an X chromosome, either in the sperm or egg. (The X chromosome is one of two chromosomes that determine the sex of a person. A female inherits an X chromosome from each parent, and a male inherits a Y chromosome from his father and an X chromosome from his mother.) A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two.
Growth hormone deficiency
The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified.
Other causes of dwarfism include deficiencies in other hormones and poor nutrition.
- 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.
