Toulouse Lautrec Syndrome: Causes, Symptoms & Treatments

Toulouse lautrec syndrome is a disease that is coined from the name of a famous French artist Henri de Toulouse-Lautrec who lived during the 19th century and had the disorder. Toulouse Lautrec syndrome also clinically known as pycnodysostosis (PYCD) is a rare disease of the genes. In about 1.7 million people worldwide, this disease affects about 1 person. Just about 200 cases have been documented and described in books. This rate genetic disease causes the bones to become brittle. The face, hands and other parts of the body becomes abnormal as well. 


This genetic disease is caused by mutation of the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q2. The enzyme cathepsin K is responsible for bone remodeling ( a process where tissues from matured bones are removed from the skeleton while new bone tissues are formed ), this enzyme breaks down collagen, the protein that supports mineral in bones like calcium and phosphate. 

The genetic mutation that results to Toulouse Lautrec syndrome makes much collagen to be built up in the body resulting to very dense but brittle bones. Toulouse Lautrec syndrome is an autosomal recessive disorder which means that two copies of an abnormal gene must be present in order for the disease or trait to develop. Remember that your genes come in pairs, some from your father and the other from your mother. For you to have this genetic disease, both of your parents must have one mutated gene which makes them carriers.

Here are possible scenarios for biological children of both carriers to have Toulouse Lautrec syndrome:

  • If a child is passed down one mutated gene and one unaffected gene, he or she becomes a carrier but will not develop the disease. This is 50 percent chance.
  • If a child is passed down mutated gene from both parents, there is 25 percent chance that he or she will develop the disease.
  • If a child has the unaffected gene from both parents, there is 25 percent chance he or she will not have the disease nor be a carrier.



The main and easily known symptoms of pycnodysostosis is dense and brittle bones but there are other symptoms that can show differently in people with this condition.

Some of these symptoms are:

  • Short toes
  • High forehead
  • Swollen and expanded liver
  • Short fingers and unusual fingernails
  • The roof of the mouth is narrow
  • Short stature or dwarfism with an adult-size trunk ( Adult males with the disease are less than 150 centimeters while female sufferers are shorter )
  • Breathing patterns are not normal
  • Wide soft spot on the skull
  • Slow in processing mental tasks, reasoning and thinking however, intelligence is not affected.

Risk of having the genetic disorder include having fractures due to the weakness of the bones which can cause:

  • Less mobility
  • Inability to exercise leading to weight loss and effects on general health.


It is very rare to see someone with this disease. Your chances of having Toulouse Lautrec syndrome is low if no one in your family have ever suffered from it. However, if you are born out of a consanguineous marriage ( a union between second or closer cousins), you will have a higher risk of getting the disease. 

Most parents of a child with this disease may not be sufferers, they are just carriers. There is a half chance that each parent will pass the disease to their child. It is 50 percent chance as either parent can transmit Toulouse Lautrec syndrome to the child. 


The infant stage is the best time to diagnose this genetic disease, it might not get diagnosed when you are a kid at all or the physician might make a wrong diagnosis too as it is a rare condition. Proper diagnosis involves carrying out physical examinations alongside health checkup and the medical history of the patient. If it is possible, the family’s medical history will be needed to know if the gene mutation is present in any other person in the family.

X-ray is very helpful in detecting Toulouse Lautrec syndrome because the bone structure will be shown. The images from the x-ray will show if there are abnormalities in the bone which may be symptoms of the disease. Tests such as molecular genetic testing can be done as well. It helps to detect changes in one or more genes. This test is rarely performed so it is done in specialized laboratories. 


To treat Toulouse Lautrec syndrome, there must be specialists. A child with this disease will need a team of specialists including an orthopedist ( a specialist in bone issues ), a paediatrician, an orthopaedic surgeon if possible and an endocrinologist ( a specialist in disorders involving the hormones ). An adult will need similar specialists in addition to their primary care physician for coordination and general care. Toulouse Lautrec syndrome is not classified as a hormonal disease neither is there any symptom that affects the hormones but some hormonal treatments will help relieve some certain symptoms.

Every treatment method for pycnodysostosis have to be specifically designed for the patient. If your symptom involves having the roof of your mouth narrowed, then a dentist or an orthodontist will be needed to treat your oral problem. In severe cases, an oral surgeon may be needed. For symptoms involving facial abnormalities and deformities like having high forehead, a cosmetic surgeon will provide treatment.

The most common symptom people with Toulouse Lautrec syndrome experience is having a lot of fractures caused by falls or other injuries as well including stress fractures that developed over time due to their brittle bones. This means that they will always receive care from an orthopedist and orthopaedic surgeons all through their lifetime. Some treatment methods for their bones will involve placing rods in both legs.

Another common symptom of Toulouse Lautrec syndrome is having short stature, so an endocrinologist will be needed as your growth hormones will have to be monitored. Some medical manipulations of genetic functions can be done to help with this symptom. A tool known as the Clustered Regularly Interspaced Palindromic Repeats (CRISPR) is used for this manipulation. This procedure involves editing the complete set of genetic material in a living organism.

Although this procedure is still new and undergoing studies as a treatment option for many genetic conditions. It is yet to be ascertained as a safe treatment for Toulouse Lautrec syndrome. Other encouraging research includes the use of enzyme inhibitors, which interfere with how enzymes act that could harm bone health.


Many confuse Toulouse Lautrec syndrome with rickets, these two diseases are very different. The similarities between both is that there is delayed growth or stunted growth in sufferers, there is bowed legs as well. But the differences are much.

1. Definition

Toulouse Lautrec syndrome is a genetic mutation disease that causes the bones to become dense but brittle, also certain parts of the body like the hands, face and legs become abnormal.

Rickets is a disease that causes the bones in children to become weak and soft due to extreme lack of vitamin D. Sometimes, rare inherited disorders can cause rickets too like when a mother with severe vitamin D deficiency passes it to a baby.

2. Symptoms

Signs of Toulouse Lautrec syndrome are having high forehead, short stature or dwarfism, wide soft spot in the skull, narrow mouth roof, short toes, enlarged liver, abnormal breathing patterns, Short fingers and abnormal fingernails. 

Rickets have symptoms like pain in the legs, spine and pelvis, weakness of the muscle, delay in growth, delayed motor skills, bowed legs, deformed teeth, oddly shaped skull, thick wrists and ankles. 

3. Causes

Toulouse Lautrec syndrome is a genetic mutation disease, it can only be gotten when both of your parents are carriers of the abnormal gene. Rickets on the other hand is caused by extreme lack of vitamin D and medical conditions that makes it difficult for the body to absorb vitamin D. 

4. Treatment

Toulouse Lautrec syndrome has many treatment options that includes cosmetic surgery, dental care and surgery, bone treatment, gene manipulation, and hormonal treatments. The only treatment option for ticket is to focus on replacing the deficient vitamins and taking supplements. In cases of bone and teeth deformities, bone treatment and braces can be used.


Gary Lewis played the role of Colum MacKenzie in the movie or novel “Outlander”. In the movie, he had Toulouse Lautrec syndrome that made him have weak legs and most times immobile. He had bowed legs and stumpy legs but with large torso, he was always in pain due to the degenerative disease of his bones. 

One question most readers and viewers asked is if the actor Gary Lewis have Toulouse Lautrec syndrome in real life but the showrunner Ron Moore explains that actor Gary Lewis wore special socks that could later be manipulated in the visual effects department to appear bowed. Lewis also wore shoes with wedges in them and practiced the peculiar gait with which Colum walks, to better simulate his deformity.


Toulouse Lautrec syndrome is a genetic mutation disease that can be frustrating and painful. It is painful due to the constant bone fractures and teeth defects suffered have to go through. This is why it is important to undergo different tests including gene tests before getting married to avoid causing pain and defects to your children.

Having this disease is not the end of the world, however, there are certain things you will not involve in like contact sports. You can have long life expectancy with precautions and constant care form medical specialists.

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