The Dwarf Don Sebastián de Morra, by Velázquez. In his portraits of the dwarfs of Spain's royal court, the artist preferred a serious tone that emphasized their human dignity.
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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...

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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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Strange genes - genes for hirsutism, dwarfism and bedwetting traced in 1995 - 1995: The Year in Science
From Discover, 1/1/96 by Josie Glausiusz

The discovery of mutant genes for common diseases such as Alzheimer's, cancer, and diabetes occurs so frequently these days that it is almost in danger of passing without comment. Sometimes, though, geneticists head off in search of stranger stuff.

At Baylor College of Medicine in Houston last June, physician Luis Figuera and his colleagues hounded down the location of a gene for congenital generalized hypertrichosis, sometimes called werewolf syndrome. The gene, believed to be on a small region of the X chromosome, causes thick, abundant hair to sprout on the upper body and all parts of the face, including the nose, cheeks, forehead, and eyelids, of affected males. So rare is this syndrome that all 19 currently known cases occur in one Mexican family. Figuera hopes that pinpointing and cloning the gene for CGH could one day help researchers understand and treat baldness.

CGH is also intriguing as an example of an atavistic mutation--one that reactivates a gene whose function was suppressed during the course of human evolution. As with multiple nipples, a rare throwback to the days when our ancestors may have had more than one pair, this facial furriness may be caused by a gene that in most of us is kept under lock and key.

Pycnodysostosis, a hereditary form of dwarfism, is also a rare disease, occurring in fewer than 1 out of 100,000 people. This past June geneticists Mihael Polymeropoulos of the National Center for Human Genome Research in Bethesda, Maryland, and Bruce Gelb of the Mount Sinai School of Medicine in New York traced the gene for it to chromosome 1. The gene appears to play a pivotal role in the function of the osteoclasts, cells that continuously dissolve bone and regenerate it; when the gene is mutated, bones become abnormally thick, fragile, and liable to fracture. Other symptoms of the disease include an open fontanel, or soft, unfused spot on the skull, short fingers and toes, and a receding chin.

There is a famous--but disputed--case of pycnodysostosis: Henri de Toulouse-Lautrec, painter of bars, brothels, and cabarets in nineteenth-century Paris. "We know for a fact that he was dwarfed," says Gelb. "And he always wore a hat"--as in thsi photo. "Was that because he was covering up an abnormal head where the bones hadn't fused properly?" The painter incurred several serious fractures before dying at the young age of 36. His aristocratic parents were first cousins, so they might both have passed on the recessive gene. Still, his chin appears normal in photos, and there is no evidence that he had excessively short toes or fingers. "If one had the luxury of examining him, one should be able to tell for sure," says Gelb. So far, however, the Toulouse-Lautrec family has been understandably reluctant to unearth the artist.

A third disorder investigated in 1995 is not uncommon, but it's uncommon for geneticists to be studying it: bed-wetting. Severe "nocturnal enuresis," characterized by three or more bed-wetting episodes per week in children older than age seven, affects some 7 percent of the population. Remedies proposed through the ages include drinking bouillon from the boiled combs of hens and equipping the bed with alarm clocks triggered by damp sheets. Bed-wetting has often been considered a behavioral problem--and it has often been a source of shame and mortification to children.

But this past July Hans Eiberg of the Danish Center for Genome Research in Copenhagen said he'd found 11 families in whom a propensity for bed-wetting appeared to be inherited, affecting 50 percent of the children. The gene, says Eiberg, is on chromosome 13, and though he has yet to pinpoint it, he suspects it may be involved in controlling either the amount of urine produced at night or the muscles of the bladder. Eiberg hopes his discovery will lead to a greater understanding of this ailment. "Nobody believed that some cases are genetic," he says. "But this shows that it's not necessary to blame the children."

COPYRIGHT 1996 Discover
COPYRIGHT 2004 Gale Group

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