What is Larsen Syndrome?

Karize Uy

Larsen syndrome (LS) is one of the more uncommon genetic disorders, affecting only one out of 100,000 individuals. It is also congenital, which means the disorder is present from birth. Dr. Joseph Larsen, an orthopedic surgeon, first documented the occurrence of the syndrome in the 1950s. He observed more than five patients bearing the same unusual characteristics in their joints, limbs, and facial structure.

Larsen syndrome is a congenital disorder which causes deformities of the hands and feet.
Larsen syndrome is a congenital disorder which causes deformities of the hands and feet.

Common symptoms and characteristics of Larsen syndrome are the congenital dislocations of joints and deformities in the hands and feet. Both of these may result to hypermobility, an abnormal ability to over-extend and bend the joints. Babies often have limp muscles, which makes them appear rag doll-like. Another common feature is brachycephaly, or the “flat head syndrome.” People with this symptom have broader foreheads, widely-separated eyes, and a flattened nose bridge.

Larsen syndrome is congenital, which means the disorder is present from birth.
Larsen syndrome is congenital, which means the disorder is present from birth.

Other symptoms associated with Larsen syndrome are cleft palate, congenital heart problems, and a small stature. In some cases, a patient can have an abnormal spine curvature, respiratory problems, and mental retardation. Some patients with mild to moderate cases of Larsen syndrome do not possess all symptoms, but usually have the telltale features in the face and the limbs. Severe cases, however, can lead to the baby’s early death.

Larsen syndrome is an autosomal dominant congenital disorder, which means it only takes one defective copy of the gene for the disorder to be inherited. Just one parent with a mutated gene is enough to pass the same disorder to her child. Still, there are cases that reveal the disorder can also be in a recessive form, in which the offspring requires two affected genes to acquire Larsen syndrome. Rarer cases have even reported unaffected parents giving birth to affected children. Offspring of an affected parent have a 50-percent chance of inheriting the same mutated gene.

Studies show that Larsen syndrome results from a mutated protein called Filamin B (FNLB) located in a human’s chrosome 3. FNLB is partly responsible for the proper development of the skeleton. So far, no other genes have been found to affect a person with the disorder.

Larsen syndrome cannot be cured, but its symptoms can be treated and constantly monitored. Physical therapy can ease problems experienced in the joints, limbs, and spine, while surgery can reconstruct a cleft palate and fix heart problems. Breathing apparatuses and supplementary oxygen can help a patient with respiratory problems. Affected patients can have a normal life expectancy with constant care and treatment.

Congenital heart problems may be associated with Larsen syndrome.
Congenital heart problems may be associated with Larsen syndrome.

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Discussion Comments


@simrin-- I know that this is a very personal and sensitive issue and not everyone would feel okay doing this. However, there is a method called pre-implementation. This is where doctors will take eggs from the female and sperm from the male and fertilize them in the lab. Afterward, they can do genetic testing and find the fertilized eggs which are healthy (no Larsen syndrome) and implant that into the female.

I think it costs some money, but it's the best and safest way to have a baby when genetic disorders are of concern. Of course, the other completely safe thing to do is adoption. But it is possible to have a healthy, happy baby even if someone is suffering from Larsen's syndrome.


@burcinc-- I also have a relative in this situation and I know how hard it is.

She is my cousin's wife and was born with Larsen syndrome as well. She thankfully didn't have too many complications. Just some issues in her knees and feet problems. But it's nothing too serious. However, after she married my cousin, she had genetic testing to see how their children would be affected if they decide to have any. The doctor told her that her children will have 50% chance of experiencing genetic abnormalities.

She is in a fix right now because she really wants to have children. But since Larsen syndrome can be pretty serious, she is scared of having to put an innocent human being through that unnecessarily.

I have no idea what they're going to do and I can't even imagine what I would do if I was in her situation.


A friend of mine has a daughter with Larsen syndrome. She was born with several joint dislocations and a curve in her spine that's not supposed to be there. She has been receiving physical therapy since her birth and has even had to have a dangerous surgery for her spine.

Larsen syndrome might be a rare disorder, but it requires just as much care and attention as other genetic disorders. My friend's daughter has been doing a lot better in the recent years, she's now six years old. But she will probably need continuous physical therapy to keep her joints straight and prevent more complications.

It's definitely not easy for her mom, but she's a strong woman. Plus, this little girl is so cute, happy and positive. She is enjoying her life despite these health issues.

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