Signs and symptoms — other than short stature — vary considerably across the spectrum of disorders.
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. In these disorders, the head is disproportionately large compared with 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).
The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in the following:
- 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 a flattened bridge of the nose
- Progressive development of bowed legs
- Progressive development of swayed lower back
- An adult height around 4 feet (122 cm)
Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (SEDC). Signs may include:
- A very short trunk
- A short neck
- Shortened arms and legs
- Average-size hands and feet
- Broad, rounded chest
- Slightly flattened cheekbones
- Opening in the roof of the mouth (cleft palate)
- Hip deformities that result in thighbones turning inward
- A foot that's twisted or out of shape
- Instability of the neck bones
- Progressive hunching curvature of the upper spine
- Progressive development of swayed lower back
- Vision and hearing problems
- Arthritis and problems with joint movement
- Adult height ranging from 3 feet (91 cm) to just over 4 feet (122 cm)
Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development. So the head, trunk and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth, many of them result in poor development of one or more body systems.
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 normal 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 the teen years
When to see a doctor
Signs and symptoms of disproportionate dwarfism are often present at birth or in early 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.
April 03, 2016
- 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.