Subscribe to:
Post Comments (Atom)
skip to main |
skip to sidebar
A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.
About Me
- Yeon
- Hi. My name is Yeon S. Park I'm from south Korea. I'm 15 years old.
Genetics
Treacher collins syndrome
Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Treacher Collins syndrome (also known as "Treacher Collins–Franceschetti syndrome" or TCS) is a rare genetic disorder
characterized by craniofacial deformities.
One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome. The protein coded by this gene is called treacle and has been hypothesized to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant
pattern.
Symptoms of this syndrome
1.down-slanting eyes
2.notched lower eyelids
3.underdevelopment or absence of cheekbones and the side 4.wall and floor of the eye socket
5.lower jaw is often small and slanting
6.forward fair in the sideburn area
7.underdeveloped, malformed and/or prominent ears
And there is no treatment for this syndrome except operation.
Treacher collins syndrome is a congenital disease. So it usually affect young ages.
There is no special etnic groups what this syndrome affected.
All races are equally affefted and it is most common for babies to get this disease.
Treacher Collins syndrome is found in 1 in 10,000 births.
Treacher collins cyndrome's alternative name is
Mandibulofacial dysostosis.
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
1.Abnormal eye shape
2.Flat cheekbones
3.Facial clefts
4.Small jaw
5.Low-set ears
6.Malformed ears
7.Abnormal ear canal
8.Conductive hearing loss
9.Defects in the eye (coloboma that extends into the lower lid)
10.Decreased eyelashes on the lower eyelid
Treacher Collins syndrome (also known as "Treacher Collins–Franceschetti syndrome" or TCS) is a rare genetic disorder
characterized by craniofacial deformities.
One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome. The protein coded by this gene is called treacle and has been hypothesized to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant
pattern.
Symptoms of this syndrome
1.down-slanting eyes
2.notched lower eyelids
3.underdevelopment or absence of cheekbones and the side 4.wall and floor of the eye socket
5.lower jaw is often small and slanting
6.forward fair in the sideburn area
7.underdeveloped, malformed and/or prominent ears
And there is no treatment for this syndrome except operation.
Treacher collins syndrome is a congenital disease. So it usually affect young ages.
There is no special etnic groups what this syndrome affected.
All races are equally affefted and it is most common for babies to get this disease.
Treacher Collins syndrome is found in 1 in 10,000 births.
Treacher collins cyndrome's alternative name is
Mandibulofacial dysostosis.
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
1.Abnormal eye shape
2.Flat cheekbones
3.Facial clefts
4.Small jaw
5.Low-set ears
6.Malformed ears
7.Abnormal ear canal
8.Conductive hearing loss
9.Defects in the eye (coloboma that extends into the lower lid)
10.Decreased eyelashes on the lower eyelid
Batten disease
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood.
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis.Batten disease is a rare disorder caused by the abnormal build-up of substances called lipopigments in the brain, eyes, and other parts of the body.
Also it is causes of chromosomes
Early symptoms of this disorder usually appear between the ages of 5 and 10.There is som symptoms :
1.Personality changes
2.Behavior changes
3.Slow learning
4.Clumsiness
5.Stumbling
6.Vision loss
7.Seizures
There is no tratments or cures for this disease. However vitamin A,C,D can help who have this disease.
About 2-4 of every 100,000 births are affected.And there is no special race/ethnic groups what this disease affected.
Batten Disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States.
Diagnostic tests used for Batten Disease:
1.Skin or tissue sampling.
2.Electroencephalogram or EEG.
3.Electrical studies of the eyes.
4.Brain scans.
5.Enzyme assay.
6.Genetic/DNA testing
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis.Batten disease is a rare disorder caused by the abnormal build-up of substances called lipopigments in the brain, eyes, and other parts of the body.
Also it is causes of chromosomes
Early symptoms of this disorder usually appear between the ages of 5 and 10.There is som symptoms :
1.Personality changes
2.Behavior changes
3.Slow learning
4.Clumsiness
5.Stumbling
6.Vision loss
7.Seizures
There is no tratments or cures for this disease. However vitamin A,C,D can help who have this disease.
About 2-4 of every 100,000 births are affected.And there is no special race/ethnic groups what this disease affected.
Batten Disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States.
Diagnostic tests used for Batten Disease:
1.Skin or tissue sampling.
2.Electroencephalogram or EEG.
3.Electrical studies of the eyes.
4.Brain scans.
5.Enzyme assay.
6.Genetic/DNA testing
Marfan syndrome
Marfan syndrome is a genetic disorder of the body’s connective tissue, which may affect the heart, eyes, skeleton and lungs.
Marfan Syndrome is causes of 70% by heredity. It is caused by FBN1 gene .It is autosomal, and it is dominant.
Glaucoma,amblyopia,and knee,shoulder,collarbone,&finger's arthritis,and Long, narrow face are symptoms of the this syndrome.Usually, tall lean stature with disproportionate long arms and legs.
Take beta exclusion medicine is internal's medical treatment.Otherwise is just cure of operation.
Marfan syndrome is a congenital disease. So it usually affect young ages.
All races are equally affefted and it is most common for babies to get this disease.
Marfan syndrome is occured in 1 out of 10000.
If you have marfan syndrome, you may change your lifestyle:
1.No contact sports
2.No physical activities that depend on isometric exercise.ex)weight training
Marfan syndrome is heredity so you should checkup sometimes. That is one of precautionary measures.
These are main checkup way:
1.DNA test
2.Echocardiography
3.MRI
Marfan Syndrome is causes of 70% by heredity. It is caused by FBN1 gene .It is autosomal, and it is dominant.
Glaucoma,amblyopia,and knee,shoulder,collarbone,&finger's arthritis,and Long, narrow face are symptoms of the this syndrome.Usually, tall lean stature with disproportionate long arms and legs.
Take beta exclusion medicine is internal's medical treatment.Otherwise is just cure of operation.
Marfan syndrome is a congenital disease. So it usually affect young ages.
All races are equally affefted and it is most common for babies to get this disease.
Marfan syndrome is occured in 1 out of 10000.
If you have marfan syndrome, you may change your lifestyle:
1.No contact sports
2.No physical activities that depend on isometric exercise.ex)weight training
Marfan syndrome is heredity so you should checkup sometimes. That is one of precautionary measures.
These are main checkup way:
1.DNA test
2.Echocardiography
3.MRI
i didn't find the answer but can the disorder be cured or treated?
ReplyDeleteYes Luca.
ReplyDelete"Take beta exclusion medicine is internal's medical treatment.Otherwise is just cure of operation."
I read your blog, I want to ask: Marfan syndrome can affect human's important organs, such as: heart. so is the life span of person who has marfan syndrome shorter than normal people?
ReplyDeleteYes their life will be pretty shorther than normal person.
ReplyDeletedose it effect boys or girls?
ReplyDeleteit effect both boys and girls.
ReplyDeletewhat's in that last picture?
ReplyDeleteThat is affected eyes.
ReplyDelete