3M Syndrome Explanations

3M syndrome is a very rare skeletal system disorder. It is a hereditary disease that results in short stature. Changes in the face and back are particularly noticeable.

What is 3M Syndrome?

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

The 3M syndrome is one of the genetically determined forms of short stature . It is a syndrome with particular skeletal involvement. In medicine, it is also known as dolichospondylar dysplasia , Gloomy syndrome, or Le Merrer syndrome . It was named after the first American authors Miller, McKusick and Malvaux.

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

A triangular face shape and other changes in the forehead, eyebrows and chin are characteristic already at birth. Later, changes in the neck, chest, vertebrae and joints appear in the course of growth. Despite various physical anomalies, the sick person’s intelligence is normal. The severity of the symptoms and the number of abnormalities in short stature syndrome vary between patients.


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

However, if the genetic defect prevails, 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 disturbances and complaints that occur are the same for all types.

Since the syndrome results in growth changes in the skeletal system, it has long been assumed that endocrine disorders are responsible. This has not yet been published or confirmed. The genetic defect is considered to be the only cause.

Symptoms, ailments & signs

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

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

The shoulders have a square appearance and the trapezius is very noticeable. The thorax and the little fingers are shortened . The patient’s joints are hypermotile and he has a funnel chest . All symptoms occur in the patients in individual forms and numbers.

Diagnosis & course

Before birth, the suspicion of 3M syndrome can already be expressed by the malformation ultrasound. The narrowing of the bones and ribs are determined via X-rays . Ultimately, the mutation is determined via the genetic test . The diagnosis of 3M syndrome must be distinguished from floating harbor syndrome . This small growth syndrome also has language disorders that are not part of the symptoms of 3M syndrome.

When should you go to the doctor?

As a rule, 3M syndrome is diagnosed immediately after birth or through check-ups by a pediatrician . For this reason, in most cases a specific visit to the doctor is not necessary. Those affected mainly suffer from deformations of the face and chest and also from short stature. If these complaints arise, a doctor must be consulted.

A doctor should always be consulted even in the event of general delays in the child’s growth or development. This can prevent consequential damage in adulthood. It is not uncommon for the 3M syndrome to lead to language disorders. Speech disorders should also be examined and treated by a therapist so that there is no bullying or teasing later. The diagnosis of 3M syndrome is usually made by the general practitioner or the pediatrician. The further treatment of the individual symptoms and complaints can then be carried out by a specialist. As a rule, various therapies are necessary to make everyday life easier for those affected.

Treatment & Therapy

3M syndrome cannot be completely cured. Various measures are taken to alleviate the symptoms and discomfort. Usually a conservative and functional therapy is worked out. The focus is on optical corrections and exercise therapy .

The treatment of 3M syndrome is accompanied by growth hormones . Successes have already been achieved in this way and the achievement of the final physical size of the patients has been positively changed. Surgical corrections are often required on the hands and face. However, due to the shortened neck, problems can arise during anesthesia that must be taken into account.

If the patient suffers from hypotonia , Vojta therapy is used. In this therapy, the therapist applies pressure to certain areas of the patient’s body. This is in the prone, back or side position. These stimuli lead to two movement complexes, the reflex crawling and the reflex turning around.

In this way, the entire skeletal muscles are activated rhythmically. All spontaneous movements that the patient needs in everyday life are unconsciously addressed and trained. 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 in the sick person through reflex locomotion.

In addition, psychotherapy is recommended for patients and relatives of someone with 3M syndrome . In particular, dealing with the disease and the cognitive coping options in everyday life should be dealt with. Integration into a stable environment and participation in social activities are important for the sick person. By mentally strengthening the patient and his relatives, dealing with the disease is easier for everyone involved.

Outlook & forecast

The 3M syndrome causes various malformations and deformations on the patient’s face. In most cases, there is also a short stature, which can have a negative effect on the back. The growth retardation occurs at a very young age. This results in an above-average head and further deformations in the face. These can lead to psychological complaints or depression in the patient . It is not uncommon for children in particular to be teased and bullied and suffer severely from 3M syndrome.

The fingers are also shortened, which can lead to restrictions in mobility. On the back, the vertebrae shorten , which can result in pain and movement restrictions.

Unfortunately, it is not possible to treat 3M syndrome causally. For this reason, treatment is only symptomatic, although not all complaints and symptoms can be limited. Sometimes the parents of the child concerned receive psychological support in order to prevent complications. Life expectancy is usually reduced with 3M syndrome.


As a preventive measure, parents can undergo a genetic test. As soon as the 3M syndrome has already occurred in the family, parents can have it checked whether they have the defective gene in them. No further preventive measures can be taken.

You can do that yourself

The symptoms of this particular form of short stature include growth retardations that begin prenatal. The appearance, which is called abnormal in society, needs a strong mind in order to be able to confidently cope with everyday life. Parents of affected children would do well not to put short stature in the foreground of their upbringing. Rather, they should teach their children to master the hurdles of everyday life as a matter of course and self-confidently.

However , if a child’s general growth retardation or developmental disorders appear, a pediatrician should be consulted. This may prevent consequential damage. An adequate therapist is responsible for diagnosing and treating any speech disorders that occur . This later protects against teasing in kindergarten, school, training and work.

There is no cure for 3M syndrome, but there are various therapeutic approaches that can alleviate the symptoms and discomfort. These are usually functional and conservative treatments. In the course of treatment, the focus is on optical correction. The sequence of movements can also be optimized. Any affected area of ​​the body can be treated, but the gene mutation will always – more or less – remain visible. However, the mind is not affected, so everyday life can be mastered with self-acceptance and self-confidence as well as an adapted home furnishings and other practical aids.

3M Syndrome Explanations