By: Bonnie Bieganski
Although the first case of Larsen Syndrome was found to
be in the year of 1929, it was in 1950 that Dr. Loren Larsen described
a syndrome that was found to be present at birth, which he named
after himself. He described it as being characterized by multiple
dislocations of the major joints, deformities of the feet and hands,
abnormal segmentation of the spine, and by an unusual facial appearance
which include a flat nasal bridge, wide-spaced eyes, and a prominent
forehead. Airway problems, caused by lack of rigidity of the upper
airway, was an additional finding in Larsen Syndrome. Before Dr. Larsen
named this syndrome, patients were misdiagnosed as having Arthrogryposis.
This rare syndrome is thought to be caused by a generalized embryonic
connective tissue disorder during gestation. Larsen Syndrome can be inherited
as an autosomal dominant or recessive trait. In dominant disorders, a single
copy of the disease gene (received from the mother or the father) will be
expressed "dominating" the normal gene, which results in the formation of
the disease. In the recessive trait, the condition does not appear unless
a person inherits the same defective gene from both parents. If a person
receives one normal gene and one gene of the disease, the person will be a
carrier for the disease, but will most likely not have the syndrome.
Treatments may vary according to which symptoms the child may have.
Joint abnormalities require prolonged orthopedic treatment. To correct joint
defects, treatments could include special exercises, casting, braces, or
surgery. Abnormal spinal segmentations may possibly be treated either by use
of a brace or surgical procedure. If the child is born with cleft palate or
cleft lip, speech therapy or surgical procedure may be necessary. If affected
by respiratory problems, it can be treated with chest physiotherapy,
tracheotomy, and the assistance of a ventilator.
Limitations may differ with patients. Some of the limitations that
are present involve the inability to walk and limited movements of arms or
legs. Another severe limitation is cervical instability which affects the
child's ability to hold its own head up. The children who experience
this syndrome also have respiratory problems, which is quite common,
ranging from mild to severe depending on the child. The respiratory problems
are caused by a flaccid cartilage in the trachea, which partially or
completely collapses while inhaling.
Just like any other disability, a caregiver can help the child with
activities in daily living. Most importantly a caregiver should help the child
to understand his/her disability, help them learn how to be as independent as
possible, and to allow them to interact with other children.
Once again, because of the rarity of Larsen Syndrome, I have not found
any new documentation of research on Larsen Syndrome.
When Larsen Syndrome became first known, nearly all of the children that
were born with the disorder died. However, with the aid of medical equipment that
is present at this time, the death rate has decreased drastically. Needless to say,
children affected with this syndrome have many challenges to face, but modern technology
has improved the capability to empower them to overcome obstacles. Their life spans
are lengthened considerably enabling the children to live their lives to the absolute
fullest. This syndrome must be researched much more in depth in
order to acquire a better understanding of it.
I have many of the classical symptoms that have been previously described. There
are several problems that are of most concern with me. One complication is the abnormal
spinal alignment which is causing partial paralysis from the mid abdomen and down and
numbness of parts of the upper body. My respiratory difficulties result from flaccid cartilage
in the trachea, breathing muscles and weakness of the diaphragm. Also the dislocations of my
joints specifically elbows, wrists, knees, and hips are caused by generalized connective tissue
defect therefore limiting movement, weight bearing, and lifting. Despite my disabling disadvantages,
I have learned to accept myself and with the help of those around me I have also learned to
recognized my strengths and to develop them.