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Five among the rarest medical conditions that you never knew existed, MINUTIA

Five among the rarest medical conditions that you never knew existed

Matching foots with the fast pacing world medical science is growing rapidly and so is the number of disorders and diseases. Maybe these disorders are all fresh and developing as a result of global warming, human activities, pollution, over population etc or may be these diseases have always been lurking around and growth has just made us capable of detecting the unknown and taking it to the world. One thing is for sure researches have made human race able for finding the cure to so many diseases and bringing them to the limelight for the world to know, the reason being public awareness and concern for the health of the population. Here is the list of names, causes and treatments of five rarest medical conditions that you might never know existed;

Stoneman syndrome :

Affecting one in every two million people, stoneman syndrome also called the Fibrodysplasia ossificans progressive (FOP) turns the connective tissues (muscles, tendons and ligaments) of the body into bone. This growth further prevents the body movements as the disorder starts spreading from the neck and proceeds downwards in the body until it reaches the legs. The syndrome may be inherited passed from any one of the parents.

In this syndrome a second skeleton is formed above the original skeleton, this process is called heterotopic ossification (HO). The symptoms of stoneman syndrome include;

  • Malformations  of body parts such thumbs and toes
  • Heterotopic ossification that is very progressive in skeletal muscle and connective tissue.

The bone growth can be initiated even by a minor fall or small accident resulting in loss of mobility. The growth of this second skeleton is permanent and surgical procedures may even worsen the patient’s condition as the bone growth is very aggressive and the surgery may even accelerate of the process.

The most common cause of death in the patients suffering from stoneman disease is respiratory or cardiac failure as a result of severe rigidity of the chest walls.

Diagnosis: The disease can be diagnosed by imaging through radiographs. The images will show;

  • Deformity of bilateral hallux valgus
  • Prominent malformation of great toes
  • Femoral necks that are short and broad
  • HO in muscles and tissues
  • Short first metacarpal or metatarsal
  • Pseudo exostoses
  • Vertebral bodies that are tall and narrow etc.

As the syndrome is a very rare condition it can be even confused with fibrosis or cancer as a result of which diagnosis like biopsies will be followed which is even more perilous for the patient. Hence it is very important to diagnose the disease at an early stage to avoid further complications. Awareness of the disease among the radiologists can avoid such miseries. MRIs can help in early diagnosis before the initiation of the second skeleton formation.

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As a result of this syndrome the individual’s daily life processes like eating and talking becomes nearly impossible as the body gets rigid day by day.

Treatment: Until now no cure has been found to treat stoneman syndrome. But researches are in progress.

Alice in wonderland syndrome (AIWS) :

First discovered in 1955, the frequency of this syndrome is yet unknown. The disease named and described for the first time by a British psychiatrist Dr. John Todd. He named it on a famous novel “Alice in wonderland” written by Lewis Carroll. The reason behind this name is the syndrome’s unique symptoms which resembles to the events faced by the main character ‘Alice’ from the novel. AWS is also called Todd’s syndrome.

The symptoms of Alice in wonderland syndrome are;

  • The patient confuses about the shape and size of their body parts, heads and hand being the most frequent. This altered body image is the most common and the most troubling symptom in the AIWS patients.
  • Distortion of visual perception is the second in the list. While the eyes work just fine, the patient’s perspective is affected causing misconception about the shape and size of different objects. Cars, buildings, people etc. may seem smaller or larger than their actual size to the individual. The distance might also appear wrong. For example, a tree might look too far then its actual position or the ceiling may appear close.
  • Distorted sound perception.
  • Time may feel to be passing faster or very slow.
  • Migraines
  • Loss of coordination of the body parts.
  • The touching sensation may be wrong. For example, the road might feel ‘softer.’

The symptoms appear very similar to hallucinations or eye problems but the real cause is the brain. When there is a change in the way your brain perceives its surroundings or the way certain objects or body parts look, the senses of the individual is affected hence resulting such symptoms.

While the cause of this syndrome is still unknown, some studies suggest that the irregular flow of blood in the brain affects the brain’s perception of its surroundings. The irregular blood flow is caused by strange electrical activity in the brain which are caused due to brain infections, head traumas, migraines etc. However, this reason is just a theory not a proven fact and more research is needed.


There is no specific test to rule out the disease but the doctor may run a number of tests to find the possible cause. The tests may include;

  • MRI scans to take a highly detailed image of the brain.
  • Blood tests can help to find the possible infections and viruses that could be causing the symptoms of AWS.
  • Electroencephalography to measure the electrical activities in the brain.
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The disease mostly affects the children and youngsters most of the AWS patients are cured naturally as they age, in few unusual cases the patient may still experience the symptoms of AWS in their adulthood. The best treatment at the time is for the patient to sit and wait till the time passes

The symptoms may be cured there is no treatment available for AIWS.

Hutchinson-Gilford Progeria Syndrome (HGPS)

Since the year 1886 about 130 cases of Hutchinson-Gilford Progeria Syndrome have been registered in the scientific literature.

HGPS affects about one in eight million live births. It is a very rare condition and the children suffering this genetic disorder have a life span of 20 years at the maximum. The patients survive till their mid-teens or twenties in most cases as the symptoms appear like ageing in a very young age. The patient’s childhood is replaced by rapid dramatic appearance of ageing, resulting in degradation of the body. The symptoms of HGPS are;

  • Aged-looking skin
  • Hair loss (alopecia)
  • Loss of subcutaneous fat
  • Loss of eyesight
  • Kidney failure
  • Joint abnormalities
  • Fragile bones

The child may start experiencing the symptoms after 9 to 24 months of birth. The infants seem normal in appearance but as the aging hits they develop distinctive facial appearance, micrognathia, crowding or malformation of teeth followed by loss of scalp hair, eyelashes and eyebrows by the age of two and other problems such as stroke, heart diseases, unusually prominent veins, distinctive skeletal defects etc.

A specific cause for HGPS has not been found but many causes like production of abnormal lamin  A protein called progerin leading in gene change, sporadic autosomal dominant mutation,  are being suspected.


No treatment is yet available for HGPS.

Alkaptonuria :

Around the world, about one in a million people suffer from this disease. Alkaptonuria is a very rare and inherited disorder, it is also known as “black urine disease.”  

Alkaptonuria is a genetic metabolic disease. The disease prevents the body from tyrosine and phenylalanine as a result of which homogentisic acid is produced in the body. The body’s inefficiency to break these amino acids results in dark coloration of urine or certain other parts of the body.

In a series of chemical reactions, Amino acids which are the building blocks of protein breaks down in the body but the homogentisic acid produced due to the disease cannot be broken down, as the enzymes that helps to break the simple amino acids do not work on this acid.

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 Hence the homogentisic acid starts to accumulate in different parts of the body. The acid can build up in parts like cartilage, heart, ears, tendons, bones and nails staining the tissues dark apart from the other problems. The first symptoms may not be noticed until the age of 30.

Other symptoms of the disease include;

  • Joint disease or abnormalities
  • Unusual curvature of the spine forming hunch.
  • Men may even develop prostate stones
  • Heart diseases can be caused due to accumulation of the homogentisic acid in the valves
  • Possibilities of kidney stones are to occur in some cases
  • Calcification of small blood vessels

While the disease affects both male and female in the same number, the symptoms are more progressive in men. The quality of life is compromised for the individuals suffering from this disease but life expectancy remains normal.


Alkaptonuria can be diagnosed by a number of tests that includes;

  • Gas chromatography- mass spectrometry analysis- to check for joint and spinal disease
  • Molecular genetic testing – for detecting HGD gene mutations
  • Echocardiography- to detect cardiac problems, if any.
  • Computed tomography helps to check for coronary artery calcification.


There is no specific treatment available to cure the disease; certain diets are suggested to reduce the buildup. Specific symptoms can be reduced.

Chronic Focal Encephalitis (Rasmussen’s Encephalitis )

The frequency of this disease varies from 2.4 cases per 10 million people in Germany to 1.7 cases per 10 million people in UK.

Mostly found in children under the age of 10 Chronic Focal Encephalitis is quite rare in adults and teenagers.

The disease causes

  • Repeated severe seizures,
  • hemiparesis (one side of the body is paralyzed),
  • encephalitis (inflammation of the brain),
  • loss of motor skills and speech,
  • mental deterioration.  

  The frequent seizures and progressive brain damage is usual in the first eight to twelve month of the Rasmussen’s Encephalitis suffering patients. The disease then leads to a permanent but stable state of neurological deficits. The disease may even cause removal or destruction of part of the suffering child’s brain.


The disease can be diagnosed by;

  • EEG, to record brain’s electrical impulses revealing the wave patterns that can help finding a certain types of epilepsy.
  • MRIs, to get the proper image of the brain , consecutive MRIs can show the shrinkage of the side of the brain affected


Treatment for prevention or cure of the disease has not been found but brain inflammation can be controlled if diagnosed at an acute stage. The treatment is based on the symptoms various anti-seizure medicines ,anti convulsants and even surgeries can be suggested by the doctors.

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