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Achondroplastic dwarfism

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres). more...

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Incidence/Prevalence

It occurs at a frequency of about 1 in 20,000 to 1 in 40,000 births.

Clinical features

Clinical features of the disease:

  • dwarfism (nonproportional short stature)
  • shortening of the proximal limbs (termed rhizomelic shortening)
  • short fingers and toes
  • a large head with prominent forehead
  • small midface with a flattened nasal bridge
  • spinal kyphosis (convex curvature) or lordosis (concave curvature)
  • varus (bowleg) or valgus (knock knee) deformities
  • frequently have ear infections (due to Eustachian tube blockages), sleep apnea (which can be central or obstructive), and hydrocephalus

Causes

The disorder is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation.

People with achondroplasia have one normal copy of the fibroblast growth factor receptor 3 gene and one mutant copy. Two copies are invariably fatal before or shortly after birth. Only one copy of the gene needs to be present for the disorder to be seen. Thus, a person with achondroplasia has a 50% chance of passing on the gene to their offspring, meaning that 1 in 2 of their children will have achondroplasia. Since two copies are fatal, if two people with achondroplasia have children, there's a 1 in 4 chance of it dying shortly after birth; 2 out of 3 surviving children will have normal achondroplasia. However, in 3 out of 4 cases, people with achondroplasia are born to parents who don't have the condition. This is the result of a new mutation.

New gene mutations are associated with increasing paternal age (over 35 years). Studies have demonstrated that new gene mutations are exclusively inherited from the father and occur during spermatogenesis (as opposed to resulting from a gonadal mosaicism).

For the genetic details: More than 99% of achondroplasia is caused by two different mutations in the fibroblast growth factor receptor 3 (FGFR3). In about 98% of cases, the mutation is a Gly380Arg substitution, resulting from a G to A point mutation at nucleotide 1138 of the FGFR3 gene . About 1% of cases are caused by a G to C point mutation at nucleotide 1138.

There are a couple of other syndromes with a genetic basis similar to achondroplasia, namely hypochondroplasia and thanatophoric dysplasia. Both of these disorders are also caused by a genetic mutation in the FGFR3 gene.

Diagnosis

Achondroplasia can be detected before birth by the use of prenatal ultrasound. A DNA test can be performed before birth to detect homozygosity, where two copies of the mutant gene are inherited, a condition which is lethal and leads to stillbirths.

Read more at Wikipedia.org


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Stature and liberties
From Independent, The (London), 11/11/03 by CLARE RUDEBECK

Earlier this year Mike Shamash, who is 3ft 7in tall, was taking in an exhibition at the Royal Academy. Thirsty, he decided to get some "upmarket pop" from the cafe, but as he reached for the bottle, it was snatched from his hand. "The lady who worked there seemed to think that I was about to steal it," he says. "It was as if I was a strange little chap doing something untoward."

Shamash is a north London academic with a love of jazz. But in the public imagination, he still inhabits the land of fairies, goblins and freaks. Some, like the woman at the Royal Academy, suspect he is in league with the leprechauns. Others revere him (on occasion, he has been touched for luck in the street). But most frequently, he is ridiculed.

Tomorrow he's going to the House of Commons to say that he's had enough. More than 100 other dwarfs are staging a lobby of Parliament. It is, they claim, the first organised political protest by people of restricted growth, as many prefer to be called. "We are not seen as disabled. We are seen as freaks," says April Barrett, a mother of two from Birmingham, who will also be there. "The bearded lady has faded away, but our stigma is still there."

When an Early Day Motion was tabled last year calling for an end to this prejudice, there were sniggers in the halls of power. "Some people regarded it as a joke," says Patsy Calton, the Liberal Democrat MP for Cheadle, who is behind the motion and the lobby. She'd had little contact with people of restricted growth until she received a call from a very angry constituent last year.

Penny Dean, 48, whose family is all under 5ft tall, had been watching Johnny Vaughan Tonight one evening. The novelist Will Self was on the programme, and he mentioned that he and his children, when bored, sometimes went out "dwarf spotting". Dean was furious. "That's me and my family they're talking about," she says. "How are we supposed to respect ourselves, and teach our children to respect themselves, when no one respects us?" She stormed into Calton's constituency office and enlisted her support.

The BBC later apologised for the comments, but Self is not alone in using dwarfs to raise a cheap laugh. In March this year, on Baddiel and Skinner Unplanned, a question was allowed about dwarf- wrestling. In the same month, the ITV programme Hardware showed a person of restricted growth stuck in a launderette dryer. In August, a BBC world athletics commentator read out an e-mail asking when the dwarf-throwing event was on, prompting titters in the studio.

ITV was planning to pit 44 dwarfs against an elephant in a prime- time show called Man versus Beast, due to be broadcast this month. However, the show was pulled after complaints - against the demeaning use not of dwarfs, but of animals.

The uncomfortable truth is that many British people, however liberal, find dwarfs funny, especially when they are chucked around or shoved into confined spaces. Some put the stereotype into practice. Dwarf-throwing may not be a world-championship sport, but it exists. Invented in Australia, it has spread to Britain where, Dean says, some pubs and working men's clubs have hosted events.

"As much as a small person has the right to do that sort of thing for money, there are implications for other small people," says Dean. "Those people might come out of the club a bit merry, see me and my family and decide to chuck us."

Shamash and the Restricted Growth Association, of which he is the chairman, say this has to change. "It's as if it's taken as part of the cultural scenery that people of restricted growth do weird and wacky things, however demeaning and brutalising," he says.

But the association also has to persuade other dwarfs to stop colluding in their degradation. People of restricted growth follow many career paths, but some enter an entertainment industry that frequently uses them as figures of fun. April Barrett has appeared in several films and pantomimes, playing an Ewok in Return of the Jedi. It was a wonderful experience for her. "It was the first time that I had met other little people - 42 of them in one go," she says. "It was fantastic - to be able to look people in the face and to have a dance with a fella my own size." But after a few films, she changed her mind about her acting career. "When I made the film, I just saw stardom. And I was paid lots of money. But I came to a realisation that it was not a plus for people of restricted growth. It was a minus."

Barrett had never dreamt of becoming an actress. She had wanted to work with dogs, but no kennels would take her on because of her height. Some prospective employers laughed when she turned up, while others told her that the job had gone. Today there may be less overt discrimination in the workplace, but the whispers and jokes persist.

The protesters at tomorrow's lobbying of Parliament have singled out the medical profession as particularly tactless. It's estimated that the national dwarf population numbers about 30,000. Seventy- five per cent of these babies are born to parents of average height, who normally have no history of dwarfism in the family. The condition is rarely spotted in the womb, with most parents told a few days after birth. The news is not always broken sympathetically. One mother gave birth to a baby with restricted growth last Christmas. The following day the paediatrician told her and her husband that their baby was achondroplastic. When they asked what that meant, he said, "Circus child."

Achondroplasia is the most common form of dwarfism, but there are almost 100 other conditions that cause short stature. In most of these conditions, cartilage and bone development is inhibited. It is caused by genetic mutation and may affect other areas of the body, such as the shape of the head. It does not affect mental ability.

There is no consensus in Britain about what to call people with these conditions. The word "dwarf" is regarded as insulting by some people, but not by others. "People of restricted growth" is less likely to upset anyone, but some dislike being defined by their medical condition. They may prefer to be called "small people", or "people of short stature". The Americans use the term "little people", but that has few converts here.

As so many dwarfs are born to parents of average height, it is common for them not to know any other small people when young. Shamash and Barrett had no friends of their own height until they reached adulthood. To help overcome this isolation, the Restricted Growth Association organises events for its members. Last Saturday, parents and children of restricted growth from the Manchester area got together to go dry-skiing. "It's very easy to feel alone if you are born with a restricted-growth condition," says Steve Scott, who organised the meeting. "Skiing is one of those sports where it doesn't matter what height you are. It helps to build people's confidence."

It took Barrett until her thirties, after having had two children of restricted growth, to become proud of her condition. "I am as I am, because I've had to fight my way through life," she says. And she isn't about to stop fighting. Like all groups lobbying for equal rights, people of restricted growth have had to overcome self- loathing, denial and the urge to collude with the status quo. They are now confident as a group - confident enough to go to Parliament and ask for change. "War has been declared," Barrett says. "Until we win, I won't step back."

Copyright 2003 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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