Larsen syndrome: causes, symptoms, treatment

Our genetic code is so complex that almost any serious failure could trigger a chain reaction and affect the person not with the best hand. Scientists are constantly finding new diseases, but, in their own words, ninety percent of the genome remains unexplored.

Description

Larsen Syndrome (ICD 10-code М89) – is a rare genetic disorder that has a wide range of phenotypic manifestations. The most characteristic features are the dislocations and subluxation of the large joints, the presence of malformations of the facial bones of the skull and problems with the function of limbs. Secondary manifestations include scoliosis, clubfoot, low growth and difficulty with breathing.

Larsen Syndrome called point mutations, which can occur both spontaneously and be inherited in an autosomal dominant pattern. With the changes in the FLNB gene is associated a group of diseases manifested by disorders in the skeletal system. Specific manifestations may be different even among relatives.

Causes

What's going to happen in the body to cause a syndrome Larssen? The causes of this disease still lurk in the scientific twilight. We only know that it is characteristic of autosomal dominant inheritance. That is, only one copy of altered gene is enough to transmit the pathology to their children and maybe even grandchildren. The gene can be obtained from the parents (both or one) to be either the result of a spontaneous mutation. The risk to inherit the disease - 50/50, regardless of the sex of the child and number of pregnancies.

Recommended

A tablet from worms – the relevance of the application for the person

How relevant today, drugs against worms in humans? What kind of creatures these worms, what are modern methods of treatment? We will try to answer these questions, since ignorance in this area is undesirable. Imagine a mummy, which is misleading in k...

What to do if you cracked skin on hands?

Each of us at least once in a lifetime encounter with a small, but very, when the crack the skin on the hands. At this time there are wounds of different sizes, which hurt and cause inconvenience, especially when in contact with water or detergents. ...

Spray Macho man - the key to a proper relationship between the two spouses

Male impotence is a pathological condition associated with abnormal physiological capacity of the penis to reginout and bring sexual partner pleasure in bed.sex impotenceimpotence may not men to pass unnoticed – it usually spoils his nervous sy...

The gene located in the short arm of the third chromosome. If desired, researchers can pinpoint the place where hereditary information was changed. Normally, this gene encodes a protein known in scientific circles as filamin V. He plays a significant role in the development of the cytoskeleton. Mutations cause the protein ceases to perform its functions, and this affects the cells of the body.

People with this syndrome possible mosaicism. That is, the severity and number of symptoms are directly dependent on how many cells were affected. Some people may not even be aware of the fact that they have a defect in this gene.

Epidemiology

Larsen Syndrome with the same frequency as develops men and women. According to approximate estimates, the disease occurs in one newborn out of one hundred thousand. This is, fortunately, a rarity. Estimates are considered unreliable because there was some difficulty in identifying the syndrome.

For the First time in medical literature the disease was described in the mid-twentieth century. Lauren Larsen and co-authors found and fixed six cases of syndrome in children.

Symptoms

Larsen Syndrome, as mentioned above, could occur even between close relatives. The most characteristic signs of the disease are changes the bones of the face. These include: a wide, low nasal bridge and a broad forehead, a flat face, the presence of a cleft of the upper lip or the hard palate. In addition, children have the dislocation of large joints (hip, knee, elbow) and subluxations of the shoulder.

The Fingers of such people is short, broad, with a slight loosening of the joints. The wrists may be additional bones that merge and compromise the biomechanics of the movements. Some people have seen such a rare phenomenon as discovered tracheal stenosis (or softening of the cartilage of the trachea).

Diagnostics

The Diagnosis is "Larsen syndrome" is made only after a full examination of the patient, careful study of its history and presence of characteristic radiological symptoms. In addition, a complete radiographic examination may reveal associated abnormalities and skeletal development that are indirectly related to the disease.

Diagnostic Ultrasound in utero can detect the syndrome Larsen. Photo bone formations for well-trained ultrasound technician can be a starting point to search for genetic abnormalities. As with at first sight we cannot say what disease led to a pathology of the skull and bones of extremities, the future mother is recommended to have an amniocentesis and genetic examination to search for mutations in the third chromosome.

If disease is confirmed, but the couple has decided on continuation of the pregnancy, the expectant mother is recommended to carry out the procedure of caesarean section to avoid damaging the bones of the child during its passage through the pelvis women with natural childbirth.

Treatment

Therapeutic measures are directed not on elimination of the disease, and at reducing clinical manifestations. Doing this, pediatricians, orthopedists, specialists in maxillofacial surgery and genetics. After evaluating the initial condition of the child and assess any risks they may proceed to the correction of existingviolations.

The Most gentle option, which is treated syndrome, Larsen, – massage. It is necessary to strengthen the muscles and ligaments that hold the joints, and to improve support your back and spine straightening. But before proceeding to therapeutic methods need a number of operations. They are necessary to correct gross deformities of the skeleton or deformities, stabilization of the vertebrae. When tracheomalacia required intubation, and then the production of the breathing tube (continuous), which will maintain the patency of the upper respiratory tract.

Treatment of this disease – a lengthy process which can take years. With the maturity of the child, the load on bones increases, and it again may require physical rehabilitation, therapeutic exercise, and maybe even surgery.