Dwarfism

=Dwarfism =

There are many different types of Dwarfism, but the most common form is called Achondroplasia.

Most cases of Dwarfism are caused by autosomal dominance inheritance. This happens during the "prenatal" state, when the FGFR3 gene mutates, and is substituted with the gene G38OR. This happens the most in dwarfs who are born to normal sized parents. The mutation however, can then be passed to children of dwarf or normal sized parents at a 50% chance.

The karyotype of an Achondroplasia Dwarf would look the same as a normal person's because the disorder does not have to do with abnormal chromosomes.

Worlds smallest girl

The features of Achondroplasia Dwarfism are short stature, short limbs, prominent forehead,and large head-to-body size difference.

In general people who have dwarfism can lead relatively normal lives. Other than the obvious inconvenience of their size, "little people" like to think of themselves as being just like everyone else.

People with Achondroplasia say that most inconveniences come when they are in public and confronted with shelves that are too tall, doors they can't open, or in their own homes, when light switches are too high, counters are too tall, and locks are unreachable. However, many people of restricted growth have no problem asking for help when they need it, or altering their home to their comfort.

You could describe the condition simply by saying that the patient is a normal person, in a little body.

Externally a person with achondroplasia is as previously mentioned, short stature, short limbs, prominent forehead, and large head-to-body difference. Internally a person with achondroplasia is very similair to a normal person also, there are no differences in intelligence, or the way the body runs. However, there are problems associated with this disorder. Apnea (when beathing slows or stops for short periods), recurrent ear infections, permanent sway of the lower back (lordosis), bowed legs, reduced muscle strength, obesity, crowding of teeth, and trouble with joint flexibility are all common. Dwarfism can be physically limiting in that the world is made for people much larger than them, and the commonly associated "sway back" can be painful. There are very few cases in which Achondroplasia is life-threatening or invariably fatal.

Achondroplasia is not any more common in one area than another, or in any ethnic group.



Some people choose to treat Dwarfism with growth hormone injections, however most doctors accept that there is not a definite cure. The related abnormalities and side effect can be treated as necessary.

Ultrasounds can detect a fall-off in limb growth in the womb. Molecular genetic testing can be used to test for mutations in the FGFR3 gene.

Picture Sources
Burns. "Achondroplastic Dwarves." "//Terrierman's Daily Dose."// 17 July. 2009. 24 April. 2010. 

"Dwarfism 101." "//steelers all the way."// 5 May.2009. 24 April. 2010. 

Guze,Carol. "Normal Human Chromosomes." //"Carol's Classroom."// 24 April. 2010. 