Goiter

Goiter
Goiter refers to a condition characterized by an enlarged thyroid. The disorder could be short-lived or an on-going problem pointing to a more serious medical condition. This may occur with or without visible swelling in the front part of the neck which can be slightly painful and tender to the touch. Having an enlarged thyroid makes the person feel like having something stuck in his/her throat making it difficult to breathe and swallow. Since the thyroid is essential for various bodily functions, a problematic thyroid gland will result in an assortment of symptoms as well.

Individuals who have goiter should seek treatment to restore normal thyroid functioning. Treatment will not only address the accompanying symptoms, but more importantly, treat the underlying cause. The suitable treatment strategy is largely dependent on the root cause. It may involve hormone therapy and surgery. It would be best to have a qualified healthcare expert diagnose the condition and design the appropriate treatment plan.

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3 Diagnosis and treatment of Goiter

4 Goiter Pictures

Symptoms of Goiter

The hallmark feature of goiter is the visible lump at the front part of the neck, close to the Adam’s apple. Though this may not be apparent in some individuals, they may still share similar problems with those with the visible lump.  These include:

• Difficulty in swallowing and breathing


• Difficulty in chewing and speaking


• Sore throat


• Cough


• Hoarseness of voice


• Tightness of neck


• Breathlessness


• Swollen vein in the neck


• Dizziness

Other bodily systems may become affected too and result in several discomforting symptoms, such as:

• Rapid heartbeat


• Increased pulse rate


• Nausea


• Vomiting


• Diarrhea or constipation


• Unusual sweating


• Nervousness


• Shaking


• Fatigue


• Dry skin


• Scanty period


• Weight gain

Causes of Goiter

Goiter develops when the thyroid gland becomes enlarged. This enlargement of the thyroid gland causes it to malfunction. Since the thyroid produces hormones that are essential for digestion, metabolism, body temperature, pulse rate, and mood, any problem with the thyroid will also affect various bodily functions.

A lot of factors can cause the thyroid to swell and malfunction, and among these are:

• 
  Lack of iodine
  

Iodine deficiency accounts for over 90% of cases of goiter across the globe. This mineral is essential in stimulating the thyroid to produce hormones. Without the sufficient amount of iodine, the pituitary gland senses this and stimulates the thyroid. The thyroid compensates for the lack of hormone by growing in size, causing it to swell up.

• 
  Certain medications or treatment method
  

Certain drugs have a drastic effect on the thyroid. Most of these medications are used for treating mood and anxiety disorders, major depression and schizoaffective disorder. Moreover, radiation test and therapy involving the neck or head have been found to cause the enlargement of the thyroid.

• 
  Hormonal changes
  

Hormonal changes are particularly worrisome during pregnancy. This is mainly due to the HCG or human chorionic gonadotropin hormone which can cause the thyroid to become enlarged especially during the last phase of pregnancy.

• 
  Tumors and infection
  

Cancerous and non-cancerous tumors can cause goiter. In fact, thyroid cancer is responsible for nearly 5% of goiter. Bacterial and viral infections can also lead to an enlarged thyroid.

• 
  Certain medical conditions
  

Grave’s disease and Hashimoto’s disease are autoimmune disorders that occur when the immune system produces antibodies that mistakenly attack the thyroid. Goiter could also be brought about by the development of multiple nodules on either or both sides of the thyroid.

Furthermore, goiter can be classified as:

• 
  Toxic
  

The thyroid is enlarged because of rounded nodules in the gland causing it to produce abnormally high amounts of thyroid hormones (or hyperthyroidism).

• 
  Non-toxic
  

There are no visible nodules involved and thyroid enlargement arises even if hormone production is relatively normal.

• 
  Colloid
  

This form is an outcome of an inactive thyroid gland resulting in low thyroid hormone (or hypothyroidism). The gland tries to compensate for the hormone inadequacy by augmenting hormone production, causing it to become enlarged.

• 
  Sporadic
  

Sporadic goiter is a diet-induced thyroid enlargement involving eating high amounts of foods that interfere with thyroid hormone production.  Some of these foods are spinach, peaches, soybeans, peanuts and cabbage.

Diagnosis and treatment of Goiter

There are plenty of treatment options to choose from and the doctor can help determine which is most suitable for the patient. The doctor will first try to figure out the reason behind the thyroid enlargement by running a series of tests, such as:

• Physical exam


• Antibody test


• Thyroid function test


• Ultrasound


• MRI or CT scan


• Thyroid scan


• Biopsy (if cancer is suspected)

The doctor will then plan the treatment based on the cause, symptoms and extent of thyroid enlargement. This may involve:

• Watchful waiting


• Hormone replacement therapy


• Radioactive treatment


• Surgery

Females are primarily at risk of goiter. Living a healthy lifestyle and eating a well-balanced diet helps in reducing the chances of having an enlarged thyroid. Goiter shouldn’t be neglected because it could possibly lead to more serious health problems.

Goiter Pictures

 

Acanthosis Nigricans Remedies

Acanthosis Nigricans Remedies

Acanthosis Nigricans is a benign dermatologic condition in which velvety grey-brown or black plaques develop on the skin. It generally occurs in areas of skin folding such as the back of the neck, armpits, or groin.

It is associated with a variety of endocrine disorders such as Addison's Disease, Cushing's Disease, and hypothyroidism. Rarely, acanthosis nigricans occurs in the setting of cancer or in association with other uncommon genetic syndromes. The most common cause, however, is insulin-resistant states such as diabetes mellitus. In addition, there is an association with obesity, itself a contributing factor to insulin resistance.

The exact cause of acanthosis nigricans is poorly understood. It is thought that high levels of insulin (as seen in diabetic patients) stimulate growth receptors in certain skin cells, leading to the characteristic hyperpigmented plaques. Acanthosis nigricans treatment is generally affected by addressing the underlying cause, most commonly obesity or elevated blood sugar. The simplest and most effective means of combating these problems are diet and exercise.

Acanthosis Nigricans Natural Cures

Decreasing overall caloric intake while maintaining a low-fat, high-fiber diet will help patients lose weight. This, in turn, will help reduce blood sugar levels. The addition of an aerobic exercise program to a balanced diet will help to further aid weight loss and blood sugar reduction.

Occasionally, if patients are unable to achieve satisfactory results with these first-line acanthosis nigricans treatment strategies, medications may be required to assist in maintaining normal blood sugar levels. As weight falls and blood sugar normalizes, the condition generally resolves.

Meningitis Rash

Meningitis Rash The term ‘meninges’ refers to the soft membranes covering the brain and meningitis is an infectious disease causing inflammation of these membranes. In severe cases meningitis can lead to poisoning of blood a condition called ‘septicaemia’. Meningitis rash is marked by characteristic rash on the body which is very clear and distinct from other type of rashes.

How you can differentiate meningitis rash from other rashes?

Meningitis rash can be easily distinguished at home by simple procedure of tumbler test. If you suspect your child or any person having meningitis all you have to do is this. You need to fix a clear glass tumbler against the red spots of rash. Now holding the glass firmly, see through the glass for the rash. If the rashes are clearly visible then it indicates meningitis rash. Normally other type of rashes responds clearly when pressed firmly. It fades in color losing its original red color.

Typical meningitis rash will not lose its color and appear blotchy on the skin surface. These rashes can occur anywhere on the body. Often it is purple or bright red in color looking very much like bruises. The appearance of rash is indicative of septicaemia (blood poison) and in many cases the rash will not appear if a person is suspected to have meningitis. The presence of rash along with other symptoms is a clear sign of meningitis or septicaemia. If someone has fever, leg pain and cold feeling in his hands and feet then you need to get immediate medical help. In case the person has a dark complexion, the rashes may not be clearly visible. You need to check in the lighter portions of the skin surface like hands or soles of feet.

Other Symptoms :

Apart from rashes these are the common symptoms or warning signals that your baby has when he has developed meningitis infection.

• There will be excess of crying and it becomes high pitched when you hold the baby


• The baby will show irregular breathing pattern


• He would have fever with blotchy skin or blue skin


• His hands and feet may be cold in spite of his fever


• He may be sleepy and drowsy


• A small soft lesion is found on his head or fontanelle


• In rare cases the baby may develop fits or show jerky movements

Symptoms in Adults :

The affected person will have fever, stiff neck, and severe headache and may develop problems in breathing. He would have joint pain; muscle pain, extreme tiredness and his skin may become blotchy and develop blood filled blisters. In due course, he may have confused thoughts and may become drowsy. Some people may start vomiting and feel nauseated.

Causes :

Meningitis is caused by micro-organisms like bacteria and virus.

Risk Factors :

Anyone can develop meningitis infection. Even an infant or an old person can develop this disease. People who have compromised immunity are at high risk of developing any infection.

Diagnoses :

If the patient is stable enough then the doctor may opt for lumbar puncture. A long thin needle is inserted on your lower back through which some liquid is collected from the spine. It is tested in the lab to find any bacterial or viral infection. CT scan is done for the patient to assess the damage caused to the brain tissues.

Treatment :

Meningitis is a life threatening disease and requires immediate treatment. It can cause complications like paralysis, deafness and brain damage. If meningitis is caused due to viral infection it can be treated and cured easily. Depending on the health condition of the patient, oxygen therapy is initiated along with medications. Antibiotics are injected into the bloodstream to attack the bacteria and to restrict its growth. Combination of antibiotics and corticosteroids are effective in treating meningitis. Meningitis rashes will disappear soon after the infectious organisms are destroyed.

Meningitis Rash Pictures :

Images, Pics, Pictures and Photos of Meningitis Rash

Prevention :

MCV4 vaccine is given to prevent meningitis infection. It is given to young adults and teenage children. If a person has increased risk then he may be given second shot of injection. Pneumococcal vaccine is given for babies and older adults to prevent against pneumococcal meningitis. For people above 60 years, MPSV4 vaccine is given.

Cloudy Vision

Cloudy Vision It is a matter of great concern if one gets problems related to vision. It can be cloudy vision, blurred vision or double vision. Cloudy vision can occur due to certain medical conditions like cataracts, glaucoma or due to retinal detachment. Sometimes it can occur due to life-threatening serious conditions like stroke or trans ischemic attack. It is necessary to seek immediate medical care if you have cloudy vision.

People often confuse the term “blurred vision” with cloudy vision. Blurred vision can be due to refractive error which is not a serious problem and can be easily corrected by wearing eyeglasses or lenses. But cloudy vision can be due to serious problem also. It can occur due to loss of transparency in your eyes.

Causes :

Often, cataract is the major cause of cloudy vision. Cataracts can occur normally as one grows older and in some cases at an early age due to chronic medical conditions like diabetes or use of certain drugs. Cataract is a condition that occurs due to accumulation of protein particles in the lens making it cloudy. Due to this, light cannot pass through the lens clearly leading to glared vision.

In some cases it can develop due to eye injury, trauma and eye infections. Inflammation of the cornea can develop due to infection and in some cases excess of accumulation of debris can cause cloudy vision. For some people vitamin A deficiency can cause cloudy vision.

Symptoms :

Some of the common symptoms of cloudy vision are partial loss of vision or blurred vision. The affected person has to strain largely to read certain words. It may also cause dryness in the eyes, irritation and double vision. You may have difficulty in seeing objects clearly which may appear to be glaring. The eyes may become overly sensitive to light and for some people there may be excess of production of tears. If you have cloudy vision along with certain medical conditions like severe headache, dizziness, numbness, and confusion of thoughts then it can be a medical emergency.

Diagnosis :

The doctor will listen to the patient’s history carefully and order for various tests like blood pressure, visual acuity test and visual field testing. An ophthalmologist will examine the pupils and measure the intraocular pressure for detecting glaucoma. If the patient has medical history of diabetes, he would check his levels of blood sugar since it can cause cataracts. Complete neurological testing may be done to rule out anomalies in the nervous system and the brain. He may also request for CT scan if he suspects pituitary tumor or atherosclerosis.

Treatment :

Treatment of cloudy vision depends entirely on the cause. A patient diagnosed with cataract may be operated for removing the cataracts. If cloudy vision is due to the intake of steroids then your doctor may prescribe suitable alternate medication for your illness. Surgery is the first line treatment for cataract. Cataract surgery is very simple procedure done on outpatient basis.

Prevention :

You cannot prevent the condition of cloudy vision since it occurs due to underlying medical issues. If you have diabetes ensure that your blood sugar levels are in normal range and visit your doctor regularly. People with family history of eye related issues should go for eye-checkup once in 2 years.

Pituitary Adenoma

Pituitary Adenoma Pituitary adenoma (tumor) is the presence of abnormal growths on the pituitary gland. This tumor like cells or adenoma can cause excess of secretion of hormones leading to various complications in the body. Pituitary gland is the master gland in our body which manages several important functions. Most of these adenoma are benign (harmless) and they do not spread to other organs of the body. Various treatment options are available for pituitary adenomas including removing them through surgery, managing its growth through medications.

Symptoms :

The size of adenoma (tumor) may vary from small to large. Small sized tumor is called micro-adenoma and large ones are known as macro-adenoma. Large tumors can exert pressure on the pituitary gland disturbing its functions. Due to excess of pressure created by adenoma the person can have several symptoms like headache, nausea, blurred vision, fatigue, missing periods (in women) and reduced libido (in men) and sudden weight loss. This would cause loss of hair in the scalp and increased urination.

In addition to the above, pituitary adenoma can also cause changes in the normal level of hormones secreted. Often, it leads to overproduction of hormones. Adrenocorticotropin is a hormone secreted by pituitary gland responsible for stimulating adrenal glands. Due to adenoma more amounts of this hormone is produced stimulating the production of cortisol leading to high blood sugar, hypertension, and fat accumulation in the upper back, anxiety and depression. For some people it can cause thinning of skin leading to several scratches and bruises.

Growth hormone (GH) is yet another important hormone secreted by pituitary gland. The presence of adenoma can lead to production of excess of GH, a condition called acromegaly. Some of the symptoms of acromegaly are excess of growth of hands and feet, misaligned teeth, abnormal facial features, joint pain, high blood sugar and heart problems.

Excess of production of prolactin by pituitary gland can affect the normal sexual functions. In women this can cause irregular periods and complete loss of menstrual periods. In men it can lead to erectile dysfunction, infertility, and loss of libido. Pituitary adenoma can also affect the thyroid hormone causing symptoms of hyperthyroidism like loss of weight, nervousness, rapid bowel movements and irregular heartbeat.

Causes :

The root cause of development of pituitary adenoma is not clear. Some people may inherit this condition from their parents during birth. It is believed to be caused by gene mutation of cells in the pituitary gland.

Who are at risk?

Pituitary adenoma can develop in older adults and is rare in children. A person with family history of endocrine neoplasia is more prone to develop this problem than others. Complications of adenoma depend on the growth of tumor and the organ it has affected. It can cause loss of vision by affecting the optical nerves, hormone deficiency and high blood sugar or diabetes insipidus.

Diagnosis :

Your doctor may order for blood test, urine analysis to check for the presence of excess of hormones. CT scan, MRI scanning will be done for locating the exact size and growth of tumor. In case if the adenoma has put pressure on your optical nerves, he may order for vision test with ophthalmologist.

Treatment :

Since majority of pituitary adenoma are harmless your doctor will not give any treatment unless he is sure that it has caused some problem. He will wait and watch for the growth of tumor by monitoring its size through various tests. Treatment options depend on the symptom and hence it varies in each case.

If pituitary adenoma has lead to overproduction of growth hormones it can be treated with somatostatin drugs. Tumor causing prolactinomas are treted with medications like cabergoline or bromocryptine. Ketoconazole is prescribed for managing Cushing’s tumor.

Pictures of Pituitary Adenoma :

Images, Pics, Pictures and Photos of Pituitary Adenoma

Surgery :

It is the best option for treating pituitary adenoma. Patients with large sized tumors and those with conditions of acromegaly would undergo surgery for removing the tumor. The doctor will analyze the patient’s health condition and age before opting for surgery. Often, tumors are removed through endonasal procedure with general anesthesia. The entire procedure will take about 2-4 hours and no external incision is made. However the patient is at risk of developing blood clot or stroke after surgery.

Radiation Therapy :

Most of the surgical patients will undergo radiation therapy to prevent further occurrence of adenomas.

Prognosis :

Prognosis of the person with pituitary adenoma depends on the size of the tumor and how far it has invaded other organs.

Russell Silver Syndrome

Russell Silver Syndrome
Russell Silver syndrome is a congenital disorder that leads to abnormal development of the body. Some of its distinctive features include short or stunted height, weak and non-standard development and growth, low weight during birth, and one side of the body may be of a different size than the other. This abnormal growth disorder was 1st noticed by Silver and his friends in the year 1953. Russell verified the same signs via his research the next year.

Russell Silver syndrome is an uncommon condition and is said to affect 1 person in fifty thousand to one hundred thousand live births. This disorder falls in the category of 200 types of dwarfism, and is also considered as one of the five types of primordial dwarfism. Till date only some 100 reports of Russell Silver syndrome have been brought to notice. But the fact is that a lot more cases of this condition have either not been reported or detected.

The good thing is that this disorder is a type of dwarfism which can be fully cured with the help of medicines and therapies. Some treatments for this syndrome include intake of growth hormones and other medicines, proper intake of adequate calories, maintaining a good diet plan, and physical therapy.

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2 Causes of Russell Silver syndrome

3 Treatment

4 Russell Silver Syndrome Pictures

Symptoms of Russell Silver syndrome

Signs and symptoms of Russell Silver syndrome are more visible in children suffering from this disorder, but it tends to disappear as they slowly grow and develop. Some characteristic signs and symptoms, as per the body parts affected, include:

• 
  Facial features
  
  
  
  • The head is of normal size. The face is triangular and visibly smaller in size. Yet, because of the short stature of a Russell Silver syndrome affected person, the head seems to be unusually big.
  
  
  • The sclera or the whites of the eyes can have a blue tinge.
  
  
  • The forehead is raised and narrows into a small jaw.
  
  
  • The corners of mouth slant downwards. The bridge of the nose is noticeable and prominent.
  
  
  • 
    Developmental problems
    
    
    
    • Poor muscle mass, or poor muscle functioning, or both can lead to impaired motor activities.
    
    
    • A large or big head in relation to the torso and neck can result in weak control of the head
    
    
    • Almost fifty percent of the Russell Silver syndrome affected children suffer from learning disabilities which includes difficulties in communication, arithmetic, and language.
    
    
    • 
      General growth and development
      
      
      
      • The birth weight of the syndrome affected child is lesser than the normal weight
      
      
      • In comparison to normal standards the postnatal growth is poor
      
      
      • Unbalanced and uneven growth is obvious
      
      
      • The occipital-frontal circumference is regular in spite of growth retardation
      
      
      • 
        Abnormalities of the skeleton
        
        
        
        • The little finger may be bent inwards
        
        
        • Abnormal and asymmetrical growth of limbs
        
        
        • The fontanel may experience delay in full closure
        
        
        • Each part of the body can look dissimilar in size in comparison to other parts.
        
        
        • Fingers may elicit fixed flexion
        
        
        • Toes may be joined together
        
        
        • The neck may appear to be too short. It may also be webbed to the torso.
        
        
        • 
          Gastrointestinal anomalies
          
          
          
          • Affected individuals may have a high risk of extremely low sugar level in blood during infancy and/or fasting.
          
          
          • Russell Silver syndrome affected child may also have several feeding problems which includes gastro-esophageal reflux, dislike of certain or all foods, esophagitis, and failure to thrive and grow.
          
          
          • 
            Other irregularities
            
            
            
            • Abnormal look/appearance of the body may lead to lack of self-esteem and social and emotional problems.
            
            
            • If the jaw is too thin, receding, or too small, then there occurs speaking and conversation problems.
            
            
            • Heart irregularities/improper functioning of the heart
            
            
            • Excess sweating of scalp and the upper body
            
            
            • Irregularities of the genital and urinary systems
            
            
            • There is an increased risk of development of some tumors.
            
            
            
            
          
          
          
          
        
        
        
        
      
      
      
      
    
    
    
    
  
  
  
  

Causes of Russell Silver syndrome

The reason for Russell Silver disorder is not known clearly. It is said that the condition happens by chance and research statistics havefound out genetic abnormalities as being among the few reasons for this syndrome. However, the genetic causes cannot be identified clearly. Both males and females are at equal risk to developing this disorder.

• Some studies have connected growth abnormalities and mutations to defects in chromosome 11


• Genomic imprinting and placental mosaicism also play a vital role in development of several signs of Russell Silver syndrome


• Pregnancy at the age of over thirty-five years raises the risk of developing this syndrome

Treatment

Some of the treatments that can be opted to lessen the symptoms include the following:

• Regulation of the consumption of the calories so that the affected individual may get the maximum advantage and good growth from added nutrition.


• Growth hormone therapy is mostly advised to treat Russell Silver syndrome. In this therapy hormones are injected daily through an injection. This therapy starts when the infant is about 2 years old and will go on till his/her teenage years. The therapy helps in improving the development rate which in turn uplifts their self-esteem and helps in social and emotional issues.


• If required, asymmetrical limbs and body parts can be treated through surgeries, and/or physiotherapies.

Russell Silver Syndrome Pictures

Cornelia de Lange syndrome

Cornelia de Lange syndrome
Cornelia de Lange syndrome is a congenital hereditary disorder which can cause severe developmental anomalies. The progress and growth of the baby is usually affected in both ways, physically and intellectually.

Cornelia de Lange syndrome is also referred to by other names like ‘Bachmann-de Lange syndrome’ or ‘Amsterdam dwarfism’. Cornelia de Lange syndrome’s occurrence rate is unknown.However, estimates indicate that the disease affects one out of every ten thousand to thirty thousand people.

The 1st person to have reported about Cornelia de Lange syndrome is W. Brachmann in the year 1916.  Later in the year 1933, a pediatrician named Cornelia de Lange from Holland explained the signs and symptoms of the disorder; therefore the syndrome was named after him. Research reports and studies have shown that the abnormalities of a gene in chromosome 5 can be a possible cause of the disorder.

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Symptoms of Cornelia de Lange syndrome

Mostly, the symptoms of Cornelia de Langesyndrome can be seen from birth. Some unusual facial characteristics are as follows:

• Upturned nose


• Small lower jawand/oran upper jaw that juts out


• Thin lips


• Presence of eye-catching eyebrows which seem to be arched and may more or less join each other


• Low front and back hairlines


• Long and curly eyelashes


• Mouth is slanting downwards

Some of the physical symptoms which may appear are as follows:

• Short neck


• Head may be too small


• Difficulties with vision and eye problems


• Abnormalities of the handsare clearly visible, like unusually small hand, absent fingers, and the little fingers may be bent inwards


• Affected babies may have an early birth and also may be very small in size when born. The affected babies may have tight muscles, low-pitched cries, and also have feeding problems.


• Excess amounts of body hair. It typically becomes thinner as the affected baby grows up.

A child with Cornelia de Lange syndrome may suffer from heart defects and problems, such as:

• Several studies show that approximately twenty to thirty per cent of the affected children also suffer from congenital cardiac disorders. The seriousness of the cardiac abnormalities may be minor like atrial septal defect to very serious like Tetralogy of Fallot.


• Cardiac defects may be seen clearly in few affected infants whereas in some it may be very restrained and subtle. Therefore, detection of such cardiac defects is usually delayed. Due to such defects in heart, the affected child may experience a short stature and stunted growth. It is therefore vital for affected children to be examined by a cardiac specialist for detection of Cornelia le Lange syndrome.

Babies suffering from Cornelia de Lange syndrome can also have several dental abnormalities. These include:

• Babies suffering from this disorder may have tiny and small teeth which are mostly jam-packed.


• Acids in stomach, because of reflux, may lead to erosion and weakening of teeth.


• The affected baby may also suffer from cleft palate. This will cause problems in breathing, feeding and speaking. Also, there is an extra risk of formation of infection in ears.

Affected Babies can also suffer from behavioral problems and disorders which include symptoms like aggression, impulsiveness, numerous tantrums, self-injuries, failure to communicate emotions, and symptoms of autism.

Causes of Cornelia de Lange syndrome

Cornelia de Lange syndrome occurs due to various mutations in different genes. Some causes as found through varied studies are listed below:

• In the year 2004, research reports from experts at Newcastle University in United Kingdom and Children’s Hospital of Philadelphia from United States of America found that changes in a specific gene called as ‘NIPBL’ on the chromosome 5 was responsible for the syndrome.


• In the year 2006, some scientists from Italy discovered the 2nd gene called as ‘SMC1A’ which is found on the chromosome X. It was said to be 2nd reason for development of Cornelia de Lange syndrome.


• In the year 2007, researchers from Philadelphia found the 3rd gene called as ‘SMC3’. This is found on the chromosome 10. Cornelia de Lange syndrome can also arise due to mutations of the SMC3 gene.

It is known that changes of the 2nd and 3rd gene lead to milder forms of Cornelia de Lange syndrome. Most cases are the result of accidental or chance events that cause changes in the genes. Still there is a possibility of abnormal gene being carried forward to the children from the parents. Therefore, this syndrome is said to have an ‘autosomal dominant model of inheritance.’ It means that one copy of this abnormal gene is enough for formation of Cornelia de Lange syndrome.

Treatment of Cornelia de Lange syndrome

No known cure is available for Cornelia de Lange syndrome. The aim of the treatments is to alleviate and correct the symptoms of the syndrome, and to prevent further complications, if any, caused because of the disorder.

Some treatments include:

• Speech therapies, behavioral therapies and physical therapies. Along with these other different kind of therapies are also essential to help in the proper development of the baby as well as to resolve behavioral and language problems.


• Doctors may opt for surgeries for correction of any associated cardiac and dental abnormalities.

 Life Expectancy

Most children with Cornelia De Lange Syndrome can live right up to adulthood but the condition may be fraught with conditions like heart problems, bowel inconsistencies and acid reflux.

Cornelia de Lange syndrome Pictures