Sentences with word «achondroplasia»

The descriptions sounds typical of the more severe form of achondroplasia dwarfism.

According to Medicine Net, people with achondroplasia might experience abnormalities like spinal cord compression resulting in pain and stiffness.

Pollinger et al., [44] identified a 40 Mb selective sweep on CFA11 associated with black coat color in Large Munsterlander and a 10 MB region on CFA3 in Dachshund containing FGFR3, which is responsible for achondroplasia in humans and presumably linked with related genes responsible for canine chondrodysplasia.

These mutations have been linked to rare developmental diseases such as achondroplasia, or «dwarfism», and Costello syndrome, a condition that involves skin deformities and mental retardation.

People with the form of dwarfism called achondroplasia rarely stand more than 1.5 meters tall.

Because of the genetic roulette involved with pregnancy, for a mom with a form of achondroplasia whose partner is average - sized, the risk of passing down the gene for dwarfism is 50 percent with each pregnancy.

244/2: 30 Functional correction of dwarfism in a mouse model of achondroplasia using the tyrosine kinase inhibitor NVP - BGJ398.

Achondroplasia is variable in its effects (alternatively there may be mimic conditions which are not currently distinguished from achondroplasia).

A man with achondroplasia, a form

There's also a 25 percent chance the child will have two genes for achondroplasia, which often results in death shortly after birth, but there's also a 50 percent chance the child will be born with dwarfism.

«It's about being fair» and opening the field to a broader pool of talented individuals, says Shakespeare, who himself has a condition known as achondroplasia, or restricted growth.

One of these was a 1912 study noting that a form of dwarfism called achondroplasia was more common among the last - born children in families than among the first - born.

A mouse that has the equivalent of achondroplasia (top) doesn't measure up to an animal that received injections of FGFR3 (bottom).

Baby Nathan Phillips» parents were warned that he might only survive for half an hour after birth, but even with his mom's achondroplasia and dad's pseudoachondroplasia, Nathan still has a chance at living a normal life.

Further, Medicine Net explains, if both parents have achondroplasia, each parent has a 50:50 chance of passing on the gene.

Cystic fibrosis, achondroplasia, phenylketonuria and Huntington's disease are each caused by simple changes in the sequence of a single gene.

A mutation in the gene encoding fibroblast growth factor receptor 3 (FGFR3) has been associated with two types of skeletal dysplasia, thanatophoric dysplasia (TD), a skeletal dysplasia that cause serious respiratory problems at birth and is often lethal, and achondroplasia (ACH), which causes stunted growth and other complications throughout life.

In children with achondroplasia, a genetic flaw causes a receptor on the surface of these chondrocytes to be hyperactive.

Although researchers haven't identified a treatment for achondroplasia, they have uncovered the molecular flaw that triggers it.

They repeatedly injected a solution of FGFR3 into mice that had a growth - hindering condition equivalent to achondroplasia.

The treatment restored normal growth in the mice and forestalled skeletal defects characteristic of achondroplasia, the researchers report online today in Science Translational Medicine.

A number of physical illnesses and birth defects have been linked to genetic mutations during sperm production in older fathers, including Apert syndrome, a rare congenital deformity of the skull, fingers and toes, and achondroplasia, the most common form of dwarfism.

Among the diseases more likely to occur in children with older fathers are achondroplasia (which causes dwarfism), progeria (premature aging), Marfan's syndrome (a connective tissue disorder), a predisposition toward a certain type of skin cancer, and some congenital heart defects.

Born with achondroplasia or dwarfism, Tsou acknowledges his struggles with weight started in childhood.

A man with achondroplasia, a form of dwarfism, inherits a train station when his only friend dies.

The word «achondroplasia» literally means «without cartilage formation,» however, the term is a bit of a misnomer as the body of a person with achondroplasia is able to form cartilage but then fails to convert it to bone (especially in the long bones, i.e. arms and legs).

In Rachel DeWoskin's novel, Big Girl Small, Judy Lohden has achondroplasia, a genetic bone growth disorder that results in short - limbed dwarfism (responsible for about 70 % of all dwarfism cases).

Like humans however, wolves and their domestic dog descendants can carry a genetic defect called achondroplasia that causes the affected animal to have disproportionately short legs.

They were originally bred by the French to have achondroplasia, known as dwarfism.

There are various forms, such as achondroplasia and pseudoachondrodysplasia, with each form having different growth problems.

achondroplasia: that type which results in an individual with extremities shorter than the trunk.