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Achondroplasia

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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DISABLED 2005 SWIMMERS of the YEAR: Preparing for the Future
From Swimming World Magazine, 12/1/05 by Lydersen, Kari

awards

Disabled Swimmers of the Year Erin Popovich and Benoit Huot were extremely successful in 2005, but they have their sights sets on even bigger challenges.

ERIN POPOVICH

Female Disabled Swimmer of the Year

Since there wasn't any major international Paralympic competition in 2005, Erin Popovich, Swimming World Magazine's female Disabled Swimmer of the Year, took the opportunity to focus on her technique and training for next years World Championships in Durban, South Africa.

"I was building up my endurance and keeping in shape, working on turns and strokes," said Popovich, 20, who has achondroplasia, a congenital bone growth disorder that results in short stature.

After winning 10 gold medals at the last two Paralympics in Sydney and Athens, Popovich continued her success in 2005 at the U.S. Disabled Nationals in Portland, Ore., where she won five golds (50 meter free, 100 free, 400 free, 50 fly and 200 IM) and a silver (100 breast).

BENOIT HUOT

Male Disabled Swimmer of the Year

Canadian Benoit Huot, who has won 12 Paralympic medals in his career, hopes some day to reach 20. If he continues to swim the way he did in 2005, there's no stopping him.

Swimming World Magazine's male Disabled Swimmer of the Year won six gold medals at the Disability Sport England Swimming Championships in May He then went to the inaugural Paralympic World Cup in Manchester, where he won gold and silver in events that were held just 15 minutes apart.

The 21-year-old Montreal swimmer, who has a club foot, started swimming to help his self-confidence. In 2004, he was one of three finalists for Canadian Male Athlete of the Year, selected over many able-bodied candidates.

Kari Lydersen is a contributing editor of Swimming World Magazine and writes for the Washington Post.

Copyright Sports Publications, Inc. Dec 2005
Provided by ProQuest Information and Learning Company. All rights Reserved

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