3M syndrome is a very rare disease of the skeletal system. It is a hereditary disease that results in a short stature. Particularly noticeable are changes in the face as well as in the area of ​​the back.

What is the 3M syndrome?

3M syndrome is a very rare disease of the skeletal system. A triangular face shape and other changes in the area of ​​the forehead, eyebrows and chin are characteristic at birth.

3M syndrome is one of the genetic forms of dwarfism. It is a syndrome with special involvement of the skeleton. In medicine, it is also referred to as dolichospondylar dysplasia, gloomy syndrome or Le-Merrer syndrome. It was named after the American first authors Miller, McKusick and Malvaux.

Their first description of the disease took place in 1975. 3M syndrome is a very rare hereditary disease that is diagnosed with a 1: 1 million probability. It is inherited as an autosomal recessive trait. The disease can already be detected in the womb. It is characterized by a short stature.

A triangular face shape and other changes in the area of ​​the forehead, eyebrows and chin are characteristic at birth. Later, changes in the growth of the neck, chest, vertebrae and joints. Despite various physical anomalies, the intelligence of the patient is normal. The severity of the symptoms and the number of abnormalities of the small-growth syndrome vary between patients.

causes

The cause of the 3M syndrome is a genetic defect. Autosomal recessive mutations are inherited on three different genes. Recessive inheritance means that the genetic defect is not necessarily transmitted from the parents to the child. As soon as a dominant allele prevails over the recessive allele during the developmental phase of the embryo, the onset of the disease is automatically prevented.

However, the genetic defect sets, three different types of 3M syndrome are distinguished. The syndrome can be caused by mutations in the CUL7 gene (type 1), OBSL1 gene (type 2) or CCDC8 gene (type 3). The occurring disturbances and complaints are the same for all types.

Since the syndrome causes growth changes in the skeletal system, it has long been suspected that endocrine disorders are responsible. This has not been published or confirmed so far. The genetic defect is considered the only cause.

Symptoms, complaints & signs

Symptoms include severe growth delays. These already begin prenatally and continue on postnatally. The short stature is considered proportioned. It is characterized by characteristic changes in the facial area and can be detected shortly after birth. The cranial features include a large head and a triangular face shape.

The chin is pointed, the eyebrows are tight and the lips full. The nostrils are usually directed upwards. The patient has a balcony forehead and has midface hypoplasia. As the growth progresses, a short neck develops. The vertebral bodies are shortened and the bones like ribs long and narrowed.

The shoulders have a square appearance and the trapezius muscle is very noticeable. The thorax and the little fingers are shortened. The joints of the patient are hypermotile and he has a funnel chest. All symptoms occur in the patients in individual form and number.

Diagnosis & History

Prenatal the assumption of the 3M syndrome can already be expressed by the malformation ultrasound. X-rays are used to determine the narrowing of the bones and ribs. Finally, the mutation is detected by the genetic test. 3M syndrome should be differentiated from floating-harbor syndrome in diagnosis. This small growth syndrome also has speech disorders that are not part of the symptoms of 3M syndrome.

When should you go to the doctor?

As a rule, the 3M syndrome is diagnosed immediately after birth or through check-ups by a pediatrician. For this reason, in most cases no specific visit to the doctor is necessary. The affected suffer mainly from deformities on the face and in the chest and continue to suffer from short stature. Should it come to these complaints, then a doctor must be consulted.

Even with general delays in the growth or development of the child, a doctor should always be consulted. Thus, secondary damage can be avoided in adulthood. Not infrequently it comes through the 3M syndrome to speech disorders. So that it does not come later to bullying or teasing, the speech disorders should also be examined and treated by a therapist. The diagnosis of 3M syndrome is usually made by the GP or by the pediatrician. The further treatment of the individual symptoms and complaints can then be carried out by a specialist. As a rule, different therapies are necessary to make everyday life easier for the person affected.

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Treatment & Therapy

The 3M syndrome can not be completely cured. Various measures are taken to alleviate the symptoms and symptoms. Usually a conservative and functional therapy is developed. The focus is on optical corrections and movement therapy.

The treatment of the 3M syndrome is accompanied by growth hormones. Success has already been achieved and the attainment of the final physical size of the patients has been positively changed. Surgical corrections often occur on the hands and face. The shortened neck, however, can cause problems during anesthesia, which must be taken into account.

If the patient suffers from hypotonia, Vojta therapy is used. In this therapy, the therapist exerts pressure on certain areas of the patient's body. This is located in the abdominal, back or lateral position. These stimuli lead to two movement complexes, reflex creeping and reflex turning.

In this way, the entire skeletal muscle is activated rhythmically. All spontaneous movements that the patient needs in everyday life are addressed and trained unconsciously. This includes the muscle functions in the spine, arms, legs, hands, feet, and face. The aim of the therapy is to activate the elementary components of locomotion through reflex locomotions in the patient.

Accompanying psychotherapy is recommended for patients and relatives of patients with 3M syndrome. In particular, the handling of the illness and the cognitive coping possibilities in everyday life should be discussed. Integration in a stable environment and participation in social activities are important to the sufferer. Through a mental strengthening of the patient as well as his relatives, the handling of the illness is easier for all involved.

Outlook & Forecast

The 3M syndrome causes various malformations and deformities in the patient's face. In most cases, a shortage occurs, which may have a negative impact on the back. The growth delays occur at a very young age. It comes to an above-average head and further deformations in the face. These can lead to mental discomfort or depression in the patient. Not infrequently, children are particularly affected by teasing and bullying and suffer heavily from the 3M syndrome.

The fingers are also shortened, which can lead to restrictions in mobility. On the back there is a shortening of the vertebrae, which can cause pain and restrictions in the movement.

Unfortunately, it is not possible to treat the 3M syndrome causally. For this reason, the treatment is only symptomatic, although not all complaints and symptoms can be limited. Sometimes, the parents of the affected child are psychologically cared for to prevent complications. Life expectancy is usually reduced by the 3M syndrome.

prevention

Preventively, parents can undergo a genetic test. Once the 3M syndrome has already occurred in the family, parents can check to see if they carry the defective gene. Further preventive measures can not be taken.

You can do that yourself

The symptoms of this particular form of dwarfism include growth delays, which begin already before birth. The phenomenon, which is described as abnormal in society, needs a strong mind in order to confidently master everyday life. Parents of affected children do well not to put the short stature in the foreground of education. Rather, they should teach their children to master the hurdles of everyday life quite naturally and confidently.

However, if there are general growth delays or developmental disorders of a child, a pediatrician should be consulted. It may be possible to avoid consequential damage in this way. An adequate therapist is responsible for the diagnosis and treatment of speech disorders. This later protects against teasing in kindergarten, school, education and work.

The 3M syndrome can not be cured, but various therapies provide relief from symptoms and discomfort. These are usually functional and conservative treatments. In the foreground is the visual correction in the course of treatment. The movement process can also be optimized. Any affected body zone can be treated, but the gene mutation will always remain - more or less - visible. However, the mind is not affected, so can be mastered with self-acceptance and self-esteem, as well as an adapted home furnishings and other practical tools of everyday life.

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