What Is Toulouse Lautrec Syndrome?
Toulouse lautrec syndrome (TLRS) is a rare genetic disorder that causes skeletal deformities such as short stature, small head size, missing limbs or other abnormalities. The condition was first described in 1878 by French physician Jean-Baptiste Lamarck.
The disease affects males and females equally; however it appears to affect only one gender at a time. Females are affected much less frequently than males.
Symptoms of TLRS include:
Short stature (under 5 feet 7 inches) with a high forehead and thin face.
Small head size, with a low forehead and large eyes.
A wide nose, narrow mouth, thick lips and a prominent chin.
An underdeveloped jawline which may not fully close when yawning or making a deep voice sound.
A protruding tongue.
In most cases, the body proportions remain relatively unchanged from childhood through adulthood. However, some individuals develop additional features such as extra fingers or toes, a deformed foot or a congenital defect in their spine. Other symptoms may include mental retardation and developmental delays. Some children have no signs of physical abnormality whatsoever until puberty occurs; others experience growth spurts during pregnancy and childbirth.
In any case, there is usually no cure for the disease.
There is no official treatment for the condition. However, physical therapy may be helpful for those with joint contractures. In some cases a leg brace or a walker can help a person move more easily. Certain surgical techniques may also help alleviate muscle tightness and joint contractures.
Most people with the condition do not have children due to social pressures and an unwillingness to pass on the disease, though some are able to reproduce.
In some rare cases, a child may be born with the condition after TLRS was thought to be extinct in a family.
Children with the condition have many of the same needs as any other child. They usually need physical therapy, speech therapy and possibly occupational therapy. Education needs are typically similar to children without disabilities; however, they may have trouble with complex language or abstract concepts.
These children do best in structured environments with strong parental guidance and consistent rules. Most will need assistance with day-to-day activities as they get older.
The condition is an autosomal dominant trait, which means that only one parent needs to have the gene for a child to have the condition. If you have children and do not know if you or your spouse has this gene, it may be wise to consult a medical professional before deciding how to proceed.
Toulouse lautrec was a post-impressionistic painter who suffered from this condition. He was a dwarfed man with a notable hunchback. He was 4 feet 7 inches tall and had to stand on a box to paint large crowds in his works. He became famous for his paintings of the cafes and entertainment districts in Paris, France during the late 1800s.
TLRS Awareness Day
In October of 1984, a meeting took place between several mothers of children with the condition. This group formed an organization that has come to be known as The Lautrec Syndrome Association, or T.L.S.A.
for short. The goal of this organization is to increase awareness of the condition and to provide a sense of community for those who suffer from it.
In 2011, the organization held their first annual “TLRS Awareness Week”. During this week, several activities were planned in an attempt to raise awareness and educate people about the disease. These events were very successful and have continued on every year since then.
The week consists of a mixture of formal events and informal events. On the formal side, there is an annual 5-kilometer walk that takes place on the first Sunday of the week. The walk begins at Nola’s Park and has grown each year since its inception. Several nationally known speakers have been brought in to give talks about the condition, educate people, and dispel myths.
Informal activities include smaller gatherings at pubs and restaurants.
The week culminates on the weekend with a large festival in Graham Central Station Park. There is a parade with local TLRS sufferers where the Mayor of Graham officially proclaims that day as “TLRS Awareness Day.” Live music, carnival games and food trucks are all highlights of the festival. The highlight for many though, is the opportunity to meet others who suffer from the condition and to share their experiences.
Due to the success of this week and the awareness that it brings, the T.L.S.A.
has made it their goal to see Awareness Week become a national holiday recognized by all.
Risks
There are some risks associated with having this condition. The most common health issues that plague sufferers are spinal issues, including degeneration and curvature of the spine. This can lead to difficulty walking and pain. Other complications include problems with joints, especially in the hips, knees, ankles and shoulders.
The shrugging and hunching impairs the functioning of these joints and they wear out faster than normal. Other complications include respiratory issues resulting from the posture of the neck and back, and digestive issues due to the pressure on the organs.
Because the condition results in a shorter than average height, it is more difficult for the body’s systems to perform at peak efficiency. Certain parts don’t grow or develop like they should in a typical person. As time goes on, it is harder for a person with TLRS to maintain a healthy weight. This is in part due to the inefficiency of the body’s systems, and in part due to a change in metabolism to try to adapt to the abnormal body conditions.
Another serious issue with this condition is social impairment. Children and adults with the condition suffer from low self esteem and depression at higher than normal rates. There are many stigmas surrounding the condition that don’t help, such as the belief that people with it are all midgets. Because of this, those with the condition tend to not marry or have families.
Without a partner or spouse, one is unlikely to engage in sexual activity.
Having no children is directly tied to a lower life expectancy for people with the condition. This is especially true for women. It is rare for a woman over the age of 35 to be diagnosed with TLRS and it is even rarer for one over 40 to be diagnosed.
Aging adults with the condition also have a higher rate of health issues, and suffer from conditions normally associated with older people at a much younger age. Many sufferers die in their fifties or early sixties.
Sources & references used in this article:
Toulouse Lautrec Syndrome by H de Toulouse Lautrec – syndromespedia.com
Pycnodysostosis with unusual findings: a case report by Q Mujawar, R Naganoor, H Patil, AN Thobbi, S Ukkali… – Cases Journal, 2009 – Springer
Pycnodysostosis: the disease of Henri de Toulouse-Lautrec by K Markatos, AF Mavrogenis, M Karamanou… – European Journal of …, 2018 – Springer
Henri de Toulouse-Lautrec by H de Toulouse-Lautrec, D Cooper – 1952 – thereaderwiki.com
recently described cathepsin I leading to pycnodysostosis (e Toulouse-Lautrec) was too late by W Mason – researchgate.net
Pro Memoria Terence Edward Cawthorne: Toulouse-Lautrec—Triumph over Infirmity by T Cawthorne – 1970 – journals.sagepub.com
Current research on pycnodysostosis by S Turan – Intractable & rare diseases research, 2014 – jstage.jst.go.jp
Pycnodysostosis and the making of an artist by A Hodder, C Huntley, JK Aronson, M Ramachandran – Gene, 2015 – Elsevier
