Larsen Syndrome is a disorder that leads to abnormal development of bones. People with Larsen Syndrome have normal intelligence. This is a rare genetic syndrome that is linked with a wide variety of different symptoms. Characteristics associated with Larsen Syndrome are dislocated large joints, skeletal malformations and different facial formation and limb features.
If you happen to travel for the treatment of Larsen Syndrome, you would have to carefully plan out your travel expenses and the itinerary. You have to decide for the treatment center and hotels to stay for the treatment of Larsen Syndrome. Be sure to take up the appointment in advance for the treatment of Larsen Syndrome, so that you do not face any trouble.
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For more information: (links to the section below)
- What is Larsen Syndrome?
- What Causes Larsen Syndrome?
- Where to go for Larsen Syndrome?
- Larsen Syndrome treatment
- Risks associated with Larsen Syndrome
- Who can go for the treatment?
About Larsen Syndrome
Larsen Syndrome is a syndrome that affects the bones throughout a body. The individuals that are affected are usually born with clubfeet and dislocation of hips, knees and elbows. The individuals generally have extra bones in wrist and ankles that can be seen in X-rays. The tips of the fingers and thumbs of people with Larsen Syndrome is spatula shaped.
Individuals suffering from Larsen Syndrome have an undeniable large range of joint movement and short stature. They can also have abnormal curvature of spine also known as kyphosis that compresses spinal cord and leads to the weakness in the limbs. Larsen Syndrome is innate in an autosomal dominant manner and is sourced from the mutation in filabin gene (FLNB).
The mutation in the FLNB gene can occur on the spot during pregnancy or inherited as an autosomal dominant characteristic. Some patients having Larsen Syndrome have an opening in the roof of the mouth or hearing loss that is caused by bone malformation in the ears. The signs and symptoms of this syndrome vary widely even between the same family.
What Causes Larsen Syndrome?
The most common form of Larsen Syndrome is autosomal dominant inheritance. Dominant genetic disorders take place only when a single copy of an abnormal gene is compulsory for the existence of the disease. The abnormal gene can be inherited from either one of the parent or can be a result of a totally new mutation.
The FLNB gene is responsible for creating a protein known as Filamin B that plays the role of developing proper inner framework of a cell known as cytoskeleton. The mutation that occurs affects the encoding of protein created by this gene. The exact function and dysfunction of the Filamin B and what happens exactly after mutation is yet to be understood by the researchers but it is evident that the joints and skeletal system is highly affected by the process.
A few of the cases suggest that Larsen Syndrome might be a result of somatic mosaicism. In this process, the FLNB gene causing Larsen Syndrome goes through mutation after fertilization and is not inherited from a parent. Only some of the cells of the body are affected by this mutation, not all. The severity of Larsen Syndrome in this process can depend on the percentage of the cells that are affected. In the individual if all of the cells are affected then it is less severe.
Where to go for Larsen Syndrome?
In USA there are various facilities that can offer treatment for Larsen Syndrome, if you have already determined your child’s symptoms from early stages. As there are more precautions and management rather than the treatment, quite many hospitals cater to the treatment of Larsen Syndrome.
The following health care facilities would help you largely deal with the diagnosis and treatment of the syndrome:
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As Larsen Syndrome affects several body systems at once, the treatment of the process differs with every individual. Make sure that when you travel for the treatment of Larsen Syndrome, you have a set appointment with the hospital and the doctor. Look out for the best facility in USA for treating Larsen Syndrome as the monitoring of the child would have to go on till adulthood.
If careful medical care is provided, then the children with Larsen Syndrome can live a normal and healthy life. As parents, make sure that whatever hospital you visit should have follow-up care and ongoing support and services, so that you do not have to think twice if you are travelling out of your neighborhood.
Diagnosis for Larsen Syndrome starts with a thorough medical examination and history of the affected person and his/her family. The severity of skeletal findings can be detected through radiographic examination. Also, to confirm the presence of FLNB gene, molecular genetic testing can be done. Ultrasounds in the womb can help to detect the characteristics of Larsen Syndrome in the developing fetus based upon the clinical experience of sonographer.
As most of the cases are sporadic, diagnosis through ultrasound is seldom made but the confirmation from genetic testing should be done for the diagnosis of Larsen Syndrome. Skeletal malformations like joint hyperextensions, clubbed feet, facial features like depressed nasal bridge, extensively separated eyes, prominent forehead and other such bone deformities can be suggestive of Larsen Syndrome, although these deformities can relate to other syndromes as well. If you are sure of Larsen Syndrome, then sequencing of FLNB gene can be done to recognize the mutation and come in terms to definitive diagnosis.
Larsen Syndrome Treatment
The treatment of Larsen Syndrome is done according to the specific symptoms that manifest in each individual. The treatment is always targeted to be done with a specialist team of professionals. Pediatricians, orthopedic surgeons, craniofacial specialists, and geneticists who are experts in identifying skeletal disorders along with other specialists who help in treating hearing impairments to plan out an individual’s treatment strategy.
The infants are treated with joint manipulations and corrective casts or traction. A number of complications arising in the condition of Larsen Syndrome display at birth and can be treated while the child is young. The most common complications are clubfeet and craniofacial anomalies. Deformities like spinal deformities can be more problematic as the child grows towards adulthood, example being, scoliosis, cervical spine disorders and joint disorders.
Every person with Larsen Syndrome has a different case so the treatments are given on the case by case basis. Treatment for Larsen Syndrome can include non-surgical options like bracing and physical therapy whereas the surgical options include spinal fusion or implanting growing rods to stabilize the child’s spine as he or she continues to grow.
Risks associated with Larsen Syndrome
The risk of passing an abnormal gene from an affected parent to its child is 50 percent for every pregnancy in spite of the gender of the child. People who have Larsen Syndrome are at a considerable risk of cervical cord damage and secondary paralysis that has 15% probability to occur in the case of Larsen Syndrome.
In case a child has been diagnosed with Larsen Syndrome, to access the risk factors for consequent pregnancies the parents can opt for genetic testing such as karyotype test. Genetic counseling is also available to ascertain the risk factors.
Who can go for the treatment?
Larsen Syndrome has the tendency to affect males and females equally. The syndrome occurs 1 in every 100,000 individuals. It is difficult to diagnose, so determining the true frequency of its occurrence in general population is quite very difficult. It is suggested that if the Larsen Syndrome is diagnosed during early infancy then the parents should immediately carry out the treatment process as it would be helpful for your baby to lead out a normal healthy life. If the treatment starts at during adulthood, till then Larsen Syndrome would have had adverse effects on the person’s body and would hamper the treatment process.
The symptoms may differ widely, but people suffering from Larsen Syndrome have these common symptoms:
- Joint dislocation (especially of the hips, knees, and elbows)
- Hypermobile joints
- Flat, rectangular face
- Depressed nasal bridge
- Prominent forehead
- Widely spaced eyes (hypertelorism)
- ‘Spatula-like’ thumbs
- Long fingers with broad ends and short nails
- Short arms
- Cleft palate
- Curved spine
- Short stature
- Breathing problems in infancy (due to soft cartilage in the airway)
- Cardiovascular (heart) anomalies
The symptoms and severity of Larsen Syndrome may differ significantly, even between the individuals who are belonging to the same family. So, it is difficult to pin point specific symptoms. Skeletal and joint deformities with facial deformation are the most common symptoms associated with autosomal dominant Larsen Syndrome. The fingers, especially the thumbs are short and broad with square or rounded tips.
The individuals with Larsen Syndrome also have distinctive facial features that include eyes that are set apart than normal, outstanding forehead and depressed bridge of the nose. The middle part of the face is usually flat. Deafness is also a common trait among people suffering with Larsen Syndrome, generally preceded by ringing in the ears.
Also, extra bones are sometimes, present in the ankles and wrist that may fuse together during childhood. Individuals with Larsen Syndrome and cervical spine dysplasia together, are in a higher risk of damage of the cervical cord and secondary paralysis that happens in about 15% of the patients. Some symptoms of Larsen Syndrome are present during the birth itself like dislocation of large joints. Clubfoot is present in amongst 75% of the Larsen Syndrome patients.