Liddle Syndrome Liddle syndrome is related to increase in blood pressure in adolescence or early adulthood due to hereditary factor. Patients with this syndrome are often below the age group of 35 years. Symptoms of hypertension can be seen as early as childhood and for some people there may not be any symptoms and such increased blood pressure may affect the heart causing attack or even stroke. Liddle syndrome is a rare disorder that is passed on from parents to offspring.
Symptoms :
Children and adolescents affected with Liddle syndrome may show symptoms of hypertension like increase in heartbeat, profuse sweating and sudden increase in blood pressure. They may also show signs of hypokalemia (increase in sodium level) like fatigue, muscle weakness, and constipation. This reduced level of sodium in blood can cause metabolic alkalosis (increased level of pH of alkaline in blood). It can cause swelling of extremities due to fluid retention in the body.
Causes :
Liddle syndrome is hereditary and the defective genes are passed by the parents to children. Kidney of the affected person would excrete normal levels of potassium but retain most of the sodium particles leading to hypertension (increase in blood pressure).
The mode of Operation :
Liddle syndrome occurs due to autosomal disorder or defective gene mutation in which SCNNIB genes are passed to the offspring by the parents. This particular gene is involved in producing protein compound called epithelial sodium channel or ENac. Such channels are present in epithelial cells of the body and also seen in kidneys.
Whenever the blood sodium levels are low, these channels are opened to send enough of sodium particles in the blood. Under normal conditions, the kidney cells would return sodium through re-absorption method. But due to defective gene mutation of SCNNIB gene the entire function of ENac unit gets altered thus retaining more of sodium atoms on the cell surface causing increased level of sodium in blood leading to hypokalemia.
Diagnosis :
A simple testing of blood pressure and sodium level in urine is enough to diagnose Liddle syndrome. Electrolyte test of urine can be done by simple urine analysis. Aldosterone levels can also be measured. Low levels of sodium in urine with normal range of aldosterone levels indicates Liddle syndrome. Liddle syndrome is very rare condition that is inherited by birth.
Treatment :
Hypertension or increase in blood pressure can be treated with suitable medications and lifestyle modification. Young children can develop blood pressure due to wrong diet habit and sedentary lifestyle. But the doctor has to check whether this is due to genetic problem by examining the parents of the child.
Mild diuretics are often prescribed for children with high blood pressure. This should be combined with diet restriction and weight reduction. Salt content in daily diet should be reduced to the minimum to prevent further damage. Often affected children should take medication for lifelong to keep blood sodium level under control. Such patients with Liddle syndrome can pass on the defective gene to their children thus causing hypertension.
Monday, March 30, 2015
Abscess Tooth
Abscess Tooth Abscess tooth or dental abscess is the inflammation of teeth and gums due to infection. It can cause mild to severe pain. Pus or debris particles accumulate to form an abscess on your teeth causing toothache. You need to visit your dentist for treating abscess in your tooth and unlike abscess on any part of your body it will not heal naturally. Bacterial infection is the major cause of tooth abscess which builds up pus, a fluid like substance that contains dead tissues of the cells along with germs. It would cause foul smell on your teeth with pain.
Causes :
Infection and poor dental hygiene are the main causes for abscess tooth. Bacteria can grow on the leftover food material on your teeth or on the cavities and penetrate deep into the soft tissues of the oral cavity. This infection can spread from the teeth to the gums causing more complications and throbbing pain.
Symptoms :
Some of the common signs of abscess tooth are pain, inflammation (swelling) and redness of the mouth. It would cause sudden throbbing pain and the pain would increase over time. In some people if the infection is severe it can cause swelling of face and mild fever. The gums become tender to touch due to the presence of pus filled abscess. It can cause difficulty to swallow and for some people it would be difficult to open the mouth.
Complications are rare due to dental abscess but the infection would progress if not treated. The bacteria would enter into the gums and cheek and even into the jaw bone causing severe pain. Pus gets collected in the abscess and it becomes worse as time passes. For more severe cases abscess tooth can cause fever, chills, nausea and discomfort.
Diagnosis :
It is easy to identify abscess tooth by mere physical exam of the dentist.
Treatment :
You can use over the counter painkillers like ibuprofen for treating dental abscess of mild category. Sometimes the abscess would rupture on its own if you wash the mouth with warm salt water several times a day. Your dentist would drain the abscess using special sterilized needles and prescribe suitable antibiotics for clearing bacterial infection.
For some people the root of the tooth can get infected and your dentist would go for root canal treatment to remove the infected tooth. Local anesthesia would be injected on the infected gum so that you will not feel any pain during the procedure. While treating a periodontal abscess the dentist will smooth out the root surface of the infected tooth after draining off the pus inside, so that gum will close back firmly. You need to maintain good dental hygiene by brushing and flossing daily. Visit your dentist regularly to prevent tooth decay due to dental abscess.
Types :
Based on the location of abscess, abscess tooth can be classified into 2 categories.
In this type, the abscess or pus collection would form below the tooth. This is the type of abscess that is commonly seen in many people. An abscess would begin to develop in the center of the dental pulp causing tooth decay and severe pain. The bacteria would enter the teeth pulp eroding the protective layers like enamel and dentine causing tooth decay.
This abscess is formed on the supporting tissues of the teeth and it often occurs between the gums and the tooth. Abscess is formed due to dental complications like periodontal disease. The gums get slightly detached from its place causing cavities or pockets which gets subsequently filled with leftover food materials. This would give room for the bacteria to invade on it leading to form an abscess. The main reason for building of abscess is due to poor dental hygiene and eating lots of sugary foods.
Outlook :
If the abscess tooth is treated in time prognosis is good. If not treated for long periods, the infection would spread to the nearby tissues and bones and also on your throat causing difficulty in breathing.
Causes :
Infection and poor dental hygiene are the main causes for abscess tooth. Bacteria can grow on the leftover food material on your teeth or on the cavities and penetrate deep into the soft tissues of the oral cavity. This infection can spread from the teeth to the gums causing more complications and throbbing pain.
Symptoms :
Some of the common signs of abscess tooth are pain, inflammation (swelling) and redness of the mouth. It would cause sudden throbbing pain and the pain would increase over time. In some people if the infection is severe it can cause swelling of face and mild fever. The gums become tender to touch due to the presence of pus filled abscess. It can cause difficulty to swallow and for some people it would be difficult to open the mouth.
Complications are rare due to dental abscess but the infection would progress if not treated. The bacteria would enter into the gums and cheek and even into the jaw bone causing severe pain. Pus gets collected in the abscess and it becomes worse as time passes. For more severe cases abscess tooth can cause fever, chills, nausea and discomfort.
Diagnosis :
It is easy to identify abscess tooth by mere physical exam of the dentist.
Treatment :
You can use over the counter painkillers like ibuprofen for treating dental abscess of mild category. Sometimes the abscess would rupture on its own if you wash the mouth with warm salt water several times a day. Your dentist would drain the abscess using special sterilized needles and prescribe suitable antibiotics for clearing bacterial infection.
For some people the root of the tooth can get infected and your dentist would go for root canal treatment to remove the infected tooth. Local anesthesia would be injected on the infected gum so that you will not feel any pain during the procedure. While treating a periodontal abscess the dentist will smooth out the root surface of the infected tooth after draining off the pus inside, so that gum will close back firmly. You need to maintain good dental hygiene by brushing and flossing daily. Visit your dentist regularly to prevent tooth decay due to dental abscess.
Types :
Based on the location of abscess, abscess tooth can be classified into 2 categories.
- Periapical Abscess :
In this type, the abscess or pus collection would form below the tooth. This is the type of abscess that is commonly seen in many people. An abscess would begin to develop in the center of the dental pulp causing tooth decay and severe pain. The bacteria would enter the teeth pulp eroding the protective layers like enamel and dentine causing tooth decay.
- Periodontal Abscess :
This abscess is formed on the supporting tissues of the teeth and it often occurs between the gums and the tooth. Abscess is formed due to dental complications like periodontal disease. The gums get slightly detached from its place causing cavities or pockets which gets subsequently filled with leftover food materials. This would give room for the bacteria to invade on it leading to form an abscess. The main reason for building of abscess is due to poor dental hygiene and eating lots of sugary foods.
Outlook :
If the abscess tooth is treated in time prognosis is good. If not treated for long periods, the infection would spread to the nearby tissues and bones and also on your throat causing difficulty in breathing.
Irlen Syndrome
Irlen Syndrome Irlen syndrome is a disorder that affects the perception of seeing in your brain. It affects the way in which the brain perceives visual information causing distortion of words, images and environment. It may cause various behavioral as well as physical problems in children. Irlen syndrome is also called as Asfedia or visual stress. Using colored overlay sheets and tinted glasses can help the person to overcome the intensity of problem.
Symptoms :
The range of symptoms is not the same for all persons. Often, the symptoms can be detected during childhood and may continue for the rest of their life. Children with Irlen syndrome may have eye strain, headache (moderate to severe), fatigue and problems with perception of depth. Some children may not be able to read in fluorescent lights and can feel discomfort while observing busy patterns of light.
For them the text on the board or paper appears to move or shake making them unable to read. They may have problems in seeing things in extreme bright conditions or dark. In rare cases, they may develop epileptic seizures related to pattern glare.
Causes :
Exact cause of Irlen syndrome is not known but it is caused due to the way in which the brain perceives visual fields. Wrong signals in the brain causes distorted images or pictures of objects in the brain causing this problem.
Diagnosis :
Often, Irlen syndrome is not diagnosed properly since it is not an obvious issue to be identified and treated. And they think that particular distortions of environment are the same for all. This problem cannot be detected by routine visual examination.
Treatment :
For effective treatment, early detection of the problem is necessary. Many times, children grow up without knowing that they have Irlen syndrome. Irlen syndrome is not related to optical problem in any manner. It develops due to the way in which your brain perceives the visual environment.
The affected child would be screened by specific test for colors. From this assessment, the intensity of the problem can be detected. Treatment is available in the form of wearing tinted lenses or colored overlay sheets prescribed by the doctors. By early intervention, the symptoms of the problem can be corrected and the child can achieve better in academics.
Facts about Irlen Syndrome :
Symptoms :
The range of symptoms is not the same for all persons. Often, the symptoms can be detected during childhood and may continue for the rest of their life. Children with Irlen syndrome may have eye strain, headache (moderate to severe), fatigue and problems with perception of depth. Some children may not be able to read in fluorescent lights and can feel discomfort while observing busy patterns of light.
For them the text on the board or paper appears to move or shake making them unable to read. They may have problems in seeing things in extreme bright conditions or dark. In rare cases, they may develop epileptic seizures related to pattern glare.
Causes :
Exact cause of Irlen syndrome is not known but it is caused due to the way in which the brain perceives visual fields. Wrong signals in the brain causes distorted images or pictures of objects in the brain causing this problem.
Diagnosis :
Often, Irlen syndrome is not diagnosed properly since it is not an obvious issue to be identified and treated. And they think that particular distortions of environment are the same for all. This problem cannot be detected by routine visual examination.
Treatment :
For effective treatment, early detection of the problem is necessary. Many times, children grow up without knowing that they have Irlen syndrome. Irlen syndrome is not related to optical problem in any manner. It develops due to the way in which your brain perceives the visual environment.
The affected child would be screened by specific test for colors. From this assessment, the intensity of the problem can be detected. Treatment is available in the form of wearing tinted lenses or colored overlay sheets prescribed by the doctors. By early intervention, the symptoms of the problem can be corrected and the child can achieve better in academics.
Facts about Irlen Syndrome :
- As believed by many people, Irlen syndrome is not a visual problem but it is about the way in which the brain perceives certain visual fields.
- Irlen syndrome is not dyslexia but this disorder also causes reading difficulty.
- The symptoms of Irlen syndrome can be managed by wearing tinted glasses and by choosing appropriate colors suited for you.
- The sooner the problem is identified and treated the better would be the outcome.
Dubowitz Syndrome
Dubowitz Syndrome Dubowitz syndrome was first identified by Dr. Victor Dubowitz which is a rare genetic disorder. Only few hundred people have developed this syndrome around the globe. This disorder is related to retarded development and stunted growth of the child both before and after birth. It is marked with distinct features of short stature, unusual facial features and small head. Children with Dubowitz syndrome are likely to have some extent of mental retardation. Only certain traits of this disorder can be treated and other features cannot be repaired.
Symptoms :
Children born with Dubowitz syndrome have retarded growth and are short in stature. Their muscles and bone will not grow normally and they have distinct facial features with small head (microcephaly). Such children may develop various skin problems including eczema and their mental growth can also be affected due to this syndrome.
Initial symptoms can be detected in the fetus and also after birth. These children would have under-developed bones, drooping eyelids, lateral eyebrows with long distance between the eyes. They might also have some behavioral problems and they are often shy and stubborn in character. The growth of multiple organs can be affected. Such children have low birth weight and short attention span. Having eye abnormalities are quite common in children with this disorder.
Causes :
Dubowitz syndrome is genetic and caused by autosomal recessive pattern of genes inherited by birth. Both the parents should have mutated genes in them to pass it on to their child. Parents with one child having this syndrome have increased chance to have their next child also affected. Dubowitz syndrome is a rare disorder in which children are born with defective genes affecting normal growth.
Diagnosis :
The doctor can identify children with this syndrome by mere physical examination. Diagnosis can be made even during prenatal scanning.
Treatment :
Symptoms :
Children born with Dubowitz syndrome have retarded growth and are short in stature. Their muscles and bone will not grow normally and they have distinct facial features with small head (microcephaly). Such children may develop various skin problems including eczema and their mental growth can also be affected due to this syndrome.
Initial symptoms can be detected in the fetus and also after birth. These children would have under-developed bones, drooping eyelids, lateral eyebrows with long distance between the eyes. They might also have some behavioral problems and they are often shy and stubborn in character. The growth of multiple organs can be affected. Such children have low birth weight and short attention span. Having eye abnormalities are quite common in children with this disorder.
Causes :
Dubowitz syndrome is genetic and caused by autosomal recessive pattern of genes inherited by birth. Both the parents should have mutated genes in them to pass it on to their child. Parents with one child having this syndrome have increased chance to have their next child also affected. Dubowitz syndrome is a rare disorder in which children are born with defective genes affecting normal growth.
Diagnosis :
The doctor can identify children with this syndrome by mere physical examination. Diagnosis can be made even during prenatal scanning.
Treatment :
- Since it is a genetic problem nothing can be done for marked facial features and stunted growth.
- Certain problems like skin itching, chronic constipation and allergies can be controlled using effective medications.
- Experts from various medical fields should work together to manage and repair the obvious symptoms.
- For instance cardiovascular problems and optical issues can be repaired and corrected by surgery.
- Lifespan of affected child would be normal.
- Prognosis of each case is different and depends on the severity of the congenital abnormalities inherited by birth.
Adenocarcinoma
Adenocarcinoma Adenocarcinoma is the cancer that affects the glandular tissue of your body. The term “adeno” refers to gland and “carcinoma” means cancer. The cells of the body would multiply in disciplined manner. Old cells would die after some days which are replenished with newer cells. But in some cases, old cells will not die and more and more new cells are formed. This abnormal cell formation leads to cancer.
Glandular tissue is present throughout the body and very often adenocarcinoma affects the epithelial cells, interfering with its normal secretion. Though adenocarcinoma can occur anywhere on the body, it commonly occurs in lungs and colon. Other organs like cervix, stomach, pancreas and thyroid gland can also develop adenocarcinoma. Some types of gland tumors like insulinoma or vipoma are not considered as adenocarcinoma but they are neuroendocrine tumors.
Types :
Causes :
Exact cause of adenocarcinoma is not known. But it develops due to overcrowding of older cells upon which newer cells start growing forming a mass or tumor.
Diagnosis :
Your doctor will use different set of diagnostic procedures for detecting adenocarcinoma based on the part that is affected. Some of the common tests used for detecting adenocarcinoma are CT scan, MRI scan and biopsy.
Treatment :
Treatment approach differs in accordance with the size and location of cancer in the body. Surgical removal of the tumor from the glandular tissue is done in many cases. In this process some part of healthy tissues are also removed. At present non-invasive surgeries are used to reduce the chance of infection and to speed up the process of healing.
Chemotherapy is given either through medications or injection to destroy cancer causing cells. Often chemo is combined with surgery or radiation therapy. Radiation therapy is typically combined before or after surgery or along with chemotherapy.
Glandular tissue is present throughout the body and very often adenocarcinoma affects the epithelial cells, interfering with its normal secretion. Though adenocarcinoma can occur anywhere on the body, it commonly occurs in lungs and colon. Other organs like cervix, stomach, pancreas and thyroid gland can also develop adenocarcinoma. Some types of gland tumors like insulinoma or vipoma are not considered as adenocarcinoma but they are neuroendocrine tumors.
Types :
- Mucus secreting glands are affected with adenocarcinoma.
- Among all other types of lung cancer, adenocarcinoma is the most common one.
- Adeonocarcinoma can develop in prostate glands and almost all the prostate cancers arise due to adenocarcinoma.
- Cancer that occurs in exocrine pancreas is of adenocarcinomas type. Often they develop in pancreatic ducts.
- Esophagus has number of glandular cells that are prone to develop adenocarcinoma.
- Similarly cancers that occur in the colon or rectum belong to adenocarcinoma type.
Causes :
Exact cause of adenocarcinoma is not known. But it develops due to overcrowding of older cells upon which newer cells start growing forming a mass or tumor.
Diagnosis :
Your doctor will use different set of diagnostic procedures for detecting adenocarcinoma based on the part that is affected. Some of the common tests used for detecting adenocarcinoma are CT scan, MRI scan and biopsy.
Treatment :
Treatment approach differs in accordance with the size and location of cancer in the body. Surgical removal of the tumor from the glandular tissue is done in many cases. In this process some part of healthy tissues are also removed. At present non-invasive surgeries are used to reduce the chance of infection and to speed up the process of healing.
Chemotherapy is given either through medications or injection to destroy cancer causing cells. Often chemo is combined with surgery or radiation therapy. Radiation therapy is typically combined before or after surgery or along with chemotherapy.
Wolfram Syndrome
Wolfram Syndrome Wolfram syndrome is a single term used to describe collective disorders like Diabetes insipidus along with diabetes mellitus with optic atrophy and deafness. It is also shortly called as DIDMOAD disorder and is inherited by birth. The person affected with this syndrome would have diabetes plus optical problem and deafness but the intensity of the problem may not be the same for all individuals.
Since the disorder was first identified by Dr. Don Wolfram it is known after his name. Defective genes inherited by birth would affect some portion of the brain stem causing the above disorders. In addition to the above disorders, the affected child may also suffer from kidney problems and various neurological problems.
Symptoms :
Initial symptoms are evident right from early childhood days. The child may have problems in vision and hearing.
Causes :
Wolfram syndrome is autosomal recessive disorder caused by defective genes. In olden days it was believed to be caused due to abnormal function of mitochondria but later it was proved to be originating from dysfunction of endoplasmic reticulum (ER). It is the WFS1 gene also called as Wolframin that exactly causes Wolfram syndrome.
WFS1 Gene and its Function in the Cell :
It is a known fact that cell is the fundamental part of our body. WFS2 gene is an important factor for producing wolframin protein that controls the level of calcium in your cells. This protein is also present in various parts of the body like lungs, heart, bones, brain, liver and kidneys apart from its presence in the endoplasmic reticulum of the cell membrane.
ER (endoplasmic reticulum) does many function of the cell one of which is giving shape and regulating proper function. ER controls the newly formed protein (wolframin) and folds it several times to get the desired shape. Wolframin is believed to play vital role in the process of folding of protein which is subsequently distributed to various parts of the body.
This particular protein molecule wolframin helps in folding the protein responsible for secreting insulin, and helps in maintaining appropriate levels of calcium in your inner ear (that aids in hearing) and also causes loss of cells in the optical nerve leading to blindness. WFS1 gene undergoes mutations and causes Wolfram syndrome. Since the ER cannot function properly it causes apoptosis or cell death. These dead cells in the pancreas can lead to diabetes mellitus and the same loss of cells contributes for deafness and blindness also.
Diagnosis :
Children born with Wolfram syndrome cannot hear or see like other children. They are prone to develop high blood sugar in early childhood. A child with diabetes and deafness/blindness partially can be tested for Wolfram syndrome. Initial symptoms can be detected as early as 6 years. Blood test results are enough to detect diabetes and eye examination can reveal partial or full blindness. They may either have color blindness or peripheral vision.
Treatment :
It is difficult to treat Wolfram syndrome owing to many complications and being an inherited disorder. Wolfram syndrome is a very rare disorder and the intensity of symptoms is not the same for all affected children. Treatment is given based on the symptomatic presentation. Diabetes mellitus can be managed through early diagnosis through effective medications and insulin injections combined with sugar free diet and lifestyle modification. Pancreas may not be able to produce the required amount of insulin that leads to increase in blood sugar. Diabetes insipidus can cause loss of fluid accounting to dehydration and dryness. This can be managed with nasal spray like desmopressin acetate and also by medications and injections.
Optical atrophy cannot be treated and the children are taught to manage their daily routine through proper training. Loss of vision can be caused by loss of sensation from the optical nerves to the brain and also due to diabetic neuropathy. Loss of hearing can be managed by using hearing aids. Apart from the problems mentioned above, children with Wolfram syndrome can develop several mental disorders like depression/ADHD and neurological problems like epileptic seizures. In due course other organs like liver and kidney may also get affected. The rate of survival is low in such children with multiple complications.
Since the disorder was first identified by Dr. Don Wolfram it is known after his name. Defective genes inherited by birth would affect some portion of the brain stem causing the above disorders. In addition to the above disorders, the affected child may also suffer from kidney problems and various neurological problems.
Symptoms :
Initial symptoms are evident right from early childhood days. The child may have problems in vision and hearing.
Causes :
Wolfram syndrome is autosomal recessive disorder caused by defective genes. In olden days it was believed to be caused due to abnormal function of mitochondria but later it was proved to be originating from dysfunction of endoplasmic reticulum (ER). It is the WFS1 gene also called as Wolframin that exactly causes Wolfram syndrome.
WFS1 Gene and its Function in the Cell :
It is a known fact that cell is the fundamental part of our body. WFS2 gene is an important factor for producing wolframin protein that controls the level of calcium in your cells. This protein is also present in various parts of the body like lungs, heart, bones, brain, liver and kidneys apart from its presence in the endoplasmic reticulum of the cell membrane.
ER (endoplasmic reticulum) does many function of the cell one of which is giving shape and regulating proper function. ER controls the newly formed protein (wolframin) and folds it several times to get the desired shape. Wolframin is believed to play vital role in the process of folding of protein which is subsequently distributed to various parts of the body.
This particular protein molecule wolframin helps in folding the protein responsible for secreting insulin, and helps in maintaining appropriate levels of calcium in your inner ear (that aids in hearing) and also causes loss of cells in the optical nerve leading to blindness. WFS1 gene undergoes mutations and causes Wolfram syndrome. Since the ER cannot function properly it causes apoptosis or cell death. These dead cells in the pancreas can lead to diabetes mellitus and the same loss of cells contributes for deafness and blindness also.
Diagnosis :
Children born with Wolfram syndrome cannot hear or see like other children. They are prone to develop high blood sugar in early childhood. A child with diabetes and deafness/blindness partially can be tested for Wolfram syndrome. Initial symptoms can be detected as early as 6 years. Blood test results are enough to detect diabetes and eye examination can reveal partial or full blindness. They may either have color blindness or peripheral vision.
Treatment :
It is difficult to treat Wolfram syndrome owing to many complications and being an inherited disorder. Wolfram syndrome is a very rare disorder and the intensity of symptoms is not the same for all affected children. Treatment is given based on the symptomatic presentation. Diabetes mellitus can be managed through early diagnosis through effective medications and insulin injections combined with sugar free diet and lifestyle modification. Pancreas may not be able to produce the required amount of insulin that leads to increase in blood sugar. Diabetes insipidus can cause loss of fluid accounting to dehydration and dryness. This can be managed with nasal spray like desmopressin acetate and also by medications and injections.
Optical atrophy cannot be treated and the children are taught to manage their daily routine through proper training. Loss of vision can be caused by loss of sensation from the optical nerves to the brain and also due to diabetic neuropathy. Loss of hearing can be managed by using hearing aids. Apart from the problems mentioned above, children with Wolfram syndrome can develop several mental disorders like depression/ADHD and neurological problems like epileptic seizures. In due course other organs like liver and kidney may also get affected. The rate of survival is low in such children with multiple complications.
Apert Syndrome
Apert Syndrome Apert syndrome is a disorder that is marked by abnormal growth of skull bones. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. Apert syndrome is caused by defective gene mutation and it cannot be cured.
Causes :
Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.
In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.
Symptoms :
The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.
Diagnosis :
Mere physical examination of the newborn child is enough to detect Apert syndrome. In many cases, defective skull development can be diagnosed while routine scanning before delivery.
Treatment :
Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Surgery can be done to prevent further damage. The surgeon would first cut open the skull and remove fusing of skull bones. Abnormally joined bones are separated and modified and the surgery carries absolute risk. Second surgery has to be done for repairing the facial bones.
The bones of jaw and cheeks are modified and brought forward to normal position. This surgery is performed during childhood. If needed, third surgery has to be done for further correction. Another surgery for repairing the abnormal bones of hands and feet need to be done. For children born with wide set eyes, corrective eye surgery is to be done.
Other method of treatment depends on development of symptoms. Some babies would have chronic dryness in their eyes for which eye drops should be applied for retaining moisture. Obstructive sleep apnea can be repaired by wearing a mask during night which is connected to a machine to clear the airway pressure. For preventing chronic ear infections, antibiotics are effective.
Images, Pics, Photos and Pictures of Apert Syndrome :
Prognosis :
If the corrective surgery is performed before one year, the child would probably gain normal intelligence. Even then, certain features of the brain may not develop fully. With the motivation of parents and environment, the child who underwent repair surgery can attain normal intelligence level. There are children who have completed their school education and joined college with Apert syndrome.
For children with lower IQ there is every chance to develop behavioral problem. Lifespan of children with Apert syndrome varies considerably. Without any further complication in the heart the child who has successfully done with repair surgery on brain can survive and lead a normal life.
Causes :
Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.
In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.
Symptoms :
The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.
Diagnosis :
Mere physical examination of the newborn child is enough to detect Apert syndrome. In many cases, defective skull development can be diagnosed while routine scanning before delivery.
Treatment :
Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Surgery can be done to prevent further damage. The surgeon would first cut open the skull and remove fusing of skull bones. Abnormally joined bones are separated and modified and the surgery carries absolute risk. Second surgery has to be done for repairing the facial bones.
The bones of jaw and cheeks are modified and brought forward to normal position. This surgery is performed during childhood. If needed, third surgery has to be done for further correction. Another surgery for repairing the abnormal bones of hands and feet need to be done. For children born with wide set eyes, corrective eye surgery is to be done.
Other method of treatment depends on development of symptoms. Some babies would have chronic dryness in their eyes for which eye drops should be applied for retaining moisture. Obstructive sleep apnea can be repaired by wearing a mask during night which is connected to a machine to clear the airway pressure. For preventing chronic ear infections, antibiotics are effective.
Images, Pics, Photos and Pictures of Apert Syndrome :
Prognosis :
If the corrective surgery is performed before one year, the child would probably gain normal intelligence. Even then, certain features of the brain may not develop fully. With the motivation of parents and environment, the child who underwent repair surgery can attain normal intelligence level. There are children who have completed their school education and joined college with Apert syndrome.
For children with lower IQ there is every chance to develop behavioral problem. Lifespan of children with Apert syndrome varies considerably. Without any further complication in the heart the child who has successfully done with repair surgery on brain can survive and lead a normal life.
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