3M Syndrome – Causes, Symptoms & Treatment

3M syndrome

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

What is 3M syndrome?

The 3M syndrome is one of the genetically determined forms of short stature. It is a syndrome with special involvement of the skeleton. In medicine, it is also called dolichospondylar dysplasiaGloomy syndrome or Le Merrer syndrome. It was named after the American first authors Miller, McKusick and Malvaux.

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

Characteristic are already at birth a triangular face shape and further changes in the forehead, eyebrows and chin. Later, changes in the neck, chest, vertebrae and joints appear in the course of growth. Despite various physical abnormalities, the intelligence of the patient is normal. The severity of the symptoms and the number of abnormalities of the short stature syndrome vary between patients.


The cause of 3M syndrome lies in a genetic defect. Autosomal recessive mutations on three different genes are inherited. Recessive inheritance means that the genetic defect is not necessarily passed on from parents to child. As soon as a dominant allele prevails over the recessive allele during the development phase of the embryo, the onset 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 occurring disorders and complaints are the same for all types.

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

Symptoms, complaints & signs

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

The chin is pointed, the eyebrows are dense and the lips full. The nostrils are usually directed upwards. The patient has a balcony forehead and has midface hypoplasia. In the further course of growth, 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 & course

Prenatally, the assumption of 3M syndrome can already be expressed by the malformation ultrasound. X-rays are used to determine the narrowing of the bones and ribs. Ultimately, the mutation is detected via the genetic test. The 3M syndrome is to be distinguished in diagnostics from the floating harbor syndrome. This small growth syndrome also has speech disorders that do not belong to the symptoms of 3M syndrome.

When to go to the doctor?

As a rule, the 3M syndrome is detected directly after birth or by check-ups by a pediatrician. For this reason, in most cases, no targeted visit to the doctor is necessary. Those affected suffer mainly from deformities in the face and chest and continue to suffer from short stature. So if it comes to these complaints, a doctor must be consulted.

Even with general delays in the growth or development of the child, a doctor should always be consulted. In this way, consequential damage in adulthood can be avoided. Not infrequently, the 3M syndrome leads 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 general practitioner or by the pediatrician. 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 the person concerned.

Treatment & Therapy

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

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

If the patient suffers from hypotonia, Vojta therapy is used. In this therapy, pressure is exerted by the therapist on certain body zones of the patient. This is located in the prone, supine or lateral position. These stimuli lead to two movement complexes, reflex crawling and reflex flipping.

In this way, the entire skeletal muscles are rhythmically activated. All spontaneous movements that the patient needs in everyday life are addressed and trained unconsciously. This includes 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 addition, psychotherapy is recommended for patients and relatives of a person suffering from 3M syndrome. In particular, dealing with the disease and the cognitive coping possibilities in everyday life will be addressed. Integration into a stable environment and participation in social activities are important for the patient. By mentally strengthening the patient and his relatives, dealing with the disease is easier for everyone involved.

Outlook & Forecast

The 3M syndrome leads to various malformations and deformations in the patient’s face. In most cases, short stature also occurs, which can have a negative effect on the back. The growth retardations occur 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 patient. Not infrequently, especially children are affected by teasing and bullying and suffer severely 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 result in pain and restrictions in movement.

Unfortunately, it is not possible to treat 3M syndrome causally. For this reason, the treatment takes place only symptomatically, although not all complaints and symptoms can be limited. In some cases, the parents of the affected child are also psychologically cared for to prevent complications. Life expectancy is usually reduced by 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 carry the defective gene. No further preventive measures can be taken.

What you can do yourself

The symptoms of this particular form of dwarfism include growth retardations that begin prenatally. The phenomenon described as abnormal in society needs a strong mind in order to be able to master everyday life with confidence. Parents of affected children would 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.

The 3M syndrome cannot be cured, but various therapeutic approaches ensure that the symptoms and complaints are alleviated. These are usually functional and conservative treatments. In the foreground is the optical correction in the course of treatment. The motion sequence can also be optimized. Any affected area of the body can be treated, but the gene mutation will always remain – more or less – visible. However, the mind is not affected, so everyday life can be mastered with self-acceptance and self-confidence, as well as adapted home furnishings and other practical aids.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.