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Symptoms
By Mayo Clinic staffMore than 200 different medical conditions cause dwarfism. Therefore, dwarfism symptoms — other than short stature — vary considerably across the spectrum of disorders. In general, the disorders are divided into two broad categories:
- Disproportionate dwarfism. If body size is disproportionate, some parts of the body are small, and others are of average size or above-average size. Disorders causing disproportionate dwarfism inhibit the development of bones.
- Proportionate dwarfism. A body is proportionately small if all parts of the body are small to the same degree and appear to be proportioned like a body of average stature.
Disproportionate dwarfism
Most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened (but disproportionately large) limbs. The other common characteristic of these disorders is the head being disproportionately larger than the body.
Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus).
About 70 percent of all people with dwarfism have a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in:
- An average-size trunk
- Short arms and legs, with particularly short upper arms and upper legs
- Short fingers, often with a wide separation between the middle and ring fingers
- Limited mobility at the elbows
- A disproportionately large head, with a prominent forehead and flattened bridge of the nose
- Progressive development of bowed legs (genu varum)
- Progressive development of swayed lower back (lordosis)
- An adult height around 4 feet — about 122 centimeters (cm)
A disorder called spondyloepiphyseal dysplasia congenita (SEDC), while rare, is the most common cause of disproportionate dwarfism with a short trunk. Signs may include:
- A very short trunk, which may or may not be apparent in infancy
- A short neck
- Shortened arms and legs
- Average-size hands and feet
- Slightly flattened cheekbones
- Hip deformities that result in thighbones turning inward (coxa vara)
- Feet twisted or out of shape (clubfoot)
- Progressive hunching curvature of the upper spine (kyphosis)
- Progressive development of lordosis
- Vision and hearing problems
- Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)
Proportionate dwarfism
Proportionate dwarfism results from medical conditions present at birth or during early childhood that limit overall growth and development. Therefore, the head, trunk and limbs are all small but of average proportions relative to each other.
Most of these disorders are uncommon, and signs and symptoms of the disorders vary greatly. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. A few disorders causing proportionate dwarfism result in mental retardation.
Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for regular childhood growth. Signs include:
- Height below the third percentile on standard pediatric growth charts
- Growth rate slower than expected for age
- Delayed or no sexual development during adolescence
Turner syndrome, also relatively common, is a disorder that results in short stature and impaired sexual maturation in females. Some signs and symptoms may be apparent at birth or early in infancy, but delays in expected growth during childhood or sexual maturation during adolescence may be the first signs. Signs of the disorder may include:
- Wide or web-like neck
- Receding or small lower jaw
- High, narrow roof of the mouth (palate)
- Low hairline at the back of the head
- Broad chest with widely spaced nipples
- Short hands
- Arms that turn outward at the elbows (cubitus valgus)
- Swelling of the hands and feet, especially at birth
- Delayed growth
- Delayed sexual maturation
When to see a doctor
Signs and symptoms of disproportionate dwarfism are often present at birth or early in infancy. Proportionate dwarfism may not be immediately apparent. See your child's doctor if you have any concerns about your child's growth or overall development.
- 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.
