Larsen syndrome
Spinal deformities are common with Larsen syndrome. (Shutterstock photo)

Approximately one in every 100,000 children in the U.S. and four in every 100,000 children in the world are born with a rare developmental condition called Larsen Syndrome. According to the National Organization for Rare Disorders (NORD), individuals with Larsen Syndrome suffer from a number of skeletal issues, including multiple joint dislocations and deformations of the spine, hands, feet and face.

Discovered in 1950, Larsen Syndrome can be present in a mild, treatable form which allows for normal life expectancy; however, some children are severely affected and die shortly after birth.

What causes Larsen Syndrome?

Larsen syndrome is a genetic disorder caused by the mutation of the FLNB gene. FLNB is responsible for a part of the process in cytoskeleton creation, and mutations of the gene can create issues during skeletal ossification, when cartilage begins to convert into bone.

The syndrome is an inherited condition, passed down from at least one parent with the condition, though spontaneous mutations can occur. Some individuals with Larsen Syndrome have no family history of the condition.

Experts believe the disorder is a combination of skeletal deformities and hypermobility of joints.

What are the symptoms of Larsen Syndrome?

Individuals with Larsen Syndrome can have a variety of physical traits typical for the condition. These traits include, but are not limited to:

  • Multiple joint dislocations, especially at the knees, elbows and hips
  • Prominent forehead
  • Wide set eyes
  • Cataracts
  • Cleft palate
  • Extra bones in the wrists
  • Heart defects
  • Long, cylindrical fingers
  • Spinal deformations
  • Club foot
  • Short stature
  • Breathing abnormalities
  • Flat cheekbones
  • “Floppy” appearance at birth

Symptoms and their severity vary widely from individual to individual, even among members of the same family. Because some cases of the condition are extremely mild, it is possible for an adult to have Larsen Syndrome without knowing it.

Women who have the condition have a 50 percent chance of giving birth to a child with the disorder, according to Healthline.

How is Larsen Syndrome treated?

Larsen syndrome
Issues with bone formation in the feet and hands are symptoms of this rare condition. (Shutterstock photo)

Treatment for an individual with Larsen Syndrome depends on the symptoms and physical issues that the particular person is experiencing.

Many people seek the aid of physical therapy, surgery, casting and splinting.

Intensive physical therapy is often necessary after surgical repair of joints as it is an important part of building muscle strength.

Other management techniques may require the use of breathing apparatuses and feeding tubes, depending on the severity of Larsen Syndrome. Cataracts, heart issues and cleft palates often require surgical intervention; however, laxity of the trachea is a concern during anesthesia for individuals with this disorder.

For many people, chronic pain management is a necessity, and frequent doctor visits are advised to monitor the health of the skeletal system.

What is the general prognosis for Larsen Syndrome?

If Larsen Syndrome is caught early, most individuals can lead healthy lives with normal lifespans. In severe cases where the patient passes away, death is often related to respiratory issues or spinal compression and instability.

 

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