Dwarfism

Dwarfism is a condition in which a person, animal or plant is much below the ordinary size of the species. When applied to people, it implies not just extreme shortness, but a degree of disproportion. Dwarfism is now rarely used as a medical term and is sometimes (but not always) considered impolite or pejorative. Today, the term little person tends to be preferred. According to the Little People of America the human definition of this term is stated as such "a medical or genetic condition that usually results in an adult height of 4'10" or shorter, among both men and women, although in some cases a person with a dwarfing condition may be slightly taller than that." more...

Of the hundreds of causes of dwarfism in humans, most are genetic, and most involve single gene variations that affect the structure or metabolism of bone, cartilage, or connective tissue. This class of disorder is referred to by physicians as skeletal dysplasias. Chondrodystrophies, chondrodysplasias, osteochondrodystrophies are also used (fairly interchangeably) in the medical literature to refer to most of these conditions. In many of these conditions, the bones are the primary affected body part, and the person is otherwise healthy. In many others, the genetic difference affects other body systems, causing unusual features or other major problems. Achondroplasia is one of the most common and perhaps the most easily recognized skeletal dysplasia. It affects approximately 1 in 40,000 children, both males and females as it is due to a mutation of an autosomal gene.

Problems faced by people with these conditions

• Social and employment opportunities are greatly reduced, regardless of anti-discrimination laws. Self-esteem and family relationships are often affected, although not necessarily if the person(s) involved are emotionally healthy.
• Extreme shortness (in the low 2-3 foot range) can interfere with ordinary activities of daily living, like driving or even using countertops built for taller people.
• Many can have problems produced by the abnormal bone structures. Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. Reduced thoracic size can restrict lung growth and reduce pulmonary function.
• Many of the conditions are associated with disordered function of other organs, such as brain or liver (although this is rare). These problems can be more disabling than the abnormal bone growth.

Diagnosis

Shortness is usually the concern that brings the child to medical attention. Dwarfism becomes suspected because of obvious physical features, because of an obviously affected parent, or because body measurements (arm span, upper to lower segment ratio) indicate disproportion. Bone x-rays are often the key to recognition of specific skeletal dysplasia. Most children with suspected skeletal dysplasias will be referred to a genetics clinic for diagnostic confirmation and genetic counselling. See www.dwarfism.org for a list of American referral centers with special expertise in skeletal dysplasias. In the last decade, genetic tests for some of the specific disorders have become available.

Medical treatment

For many forms of dwarfism, the best medical treatment that can be offered is accurate diagnosis, prognosis, and genetic counseling information.

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