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Tetra Amelia

Biology Genetic Mutation Project

Kalel Hopwood

on 20 February 2014

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Transcript of Tetra Amelia

Tetra Amelia
What is Tetra Amelia?
Tetra Amelia is a genetic disorder in which a person has no limbs. It can also cause deformation in other parts of the body, such as the face/head, nervous system, heart, skeleton, lungs, etc.

History of Tetra Amelia
Although there is no mention of an individual who "discovered" or when it was discovered, the first (known) case of tetra amelia was in 1985 in the Zimmer et al family. They had 6 male children affected with tetra amelia and hydrocephalus (fluid buildup in the skull, causes swelling). It was first thought to have been Robert's Syndrome (abnormalities in the face and limbs) but was later determined that it was, in fact, tetra amelia.
Tetra (Greek) means "four"
Amelia (Greek) means "the natural absence on one or more limbs"
Robert's Syndrome (Left)
Tetra Amelia (Right)
The cause of tetra amelia is a mutation in the WNT3 gene. The WNT gene family is an important part in prenatal growth. The WNT3 gene makes a protein that causes limbs and other body functions to develop. Variations in this gene restricts cells from making that protein and causes abnormal limb development and other (sometimes fatal) deformities.
What causes Tetra Amelia?
WNT3 is located on the 17th Chromosome
About Tetra Amelia
~ It is considered a rare disorder
~ Tetra amelia is not treatable, and prosthetics are not an option because there is nothing to attach them too and no muscle for them to function.
~ It is often times fatal, causing some to be still-born or die shortly after birth... however, there are some acceptions.
~ The life expectancy of an individual diagnosed with Tetra Amelia depends on how much or little he or she is affected.
~ It is an autosomal recessive trait
Symptoms of Tetra Amelia
Reduced hair
Upslanting eye slits
Absent tear duct opening
Underdeveloped tear ducts
Underdeveloped tear sacs
Prominent nose
Bulbous nose
Large mouth
Downturned mouth
Carp-shaped mouth
High narrow palate
Pits in front of ears
Sacral dimple
Undescended testes

Retarded development
Absent arms
Absent legs
Mental retardation
Persistent constipation
Abnormal body temperature regulation
Absent eyebrows
Absent eyelashes
Absent scalp hair
Sparse eyebrows
Sparse eyelashes
Sparse scalp hair
Underdeveloped small intestine
Abnormal urinary bladder
And obviously, no limbs
There is no publicized research being done on tetra amelia, but it is possible that there is disclosed research going on. Keep in mind that not many people with tetra amelia live very long, if at all, after birth.
and well-known, Nick Vujicic
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