Definition of Desbuquois Syndrome in English

Abbreviated as DBQD by abbreviationfinder, the Desbuquois syndrome is a rare and congenital Osteochondrodysplasia. The main symptom is pronounced short stature with curvature of the spine and shortened extremities. In addition to physiotherapeutic measures, surgical correction methods are mainly used for treatment.

What is Desbuquois Syndrome?

The osteochondrodysplasias are the disease group of the skeletal dysplasias and cartilage dysplasias. Desbuquois syndrome, also known as Desbuquois dysplasia or micromelic dwarfism, is one of these tissue defects. As with any syndrome, Desbuquois syndrome is a complex of different symptoms. The main symptom of the disease is scoliotic short stature with hyperextensible joints.

The disease was first described in the middle of the 20th century. G. Desbuquois from Tours is considered to be the first to describe the phenomenon and gave it its name. The symptom complex seems to be closely related to Larsen syndrome or at least clinically closely resembles this disease. Contrary to what has been assumed in the past, Larsen syndrome and Desbuquois syndrome are apparently not manifestations of the same disease because different genes are involved.

The age of onset for symptoms of Desbuquois syndrome is prenatal or immediately postnatal age. The prevalence of the disease is extremely low, with an estimated incidence of less than one case in 1,000,000 people.


Desbuquois syndrome does not always seem to occur sporadically, but is sometimes associated with familial accumulation. The research assumes a genetic cause that is associated with familial disposition. The hereditary form of the disease is apparently based on an autosomal recessive inheritance. A mutation could be observed in the cases documented so far.

This mutation affects genes with the gene locus on chromosome 17q25.3. Mutations at this gene locus have been linked to many other diseases to date. In the case of Desbuquois syndrome, the mutation could not be confirmed for all patients, but only for patients with typical dysplasia of the hands.

For this reason, research currently assumes that the mutation is not causally related to the syndrome. The cause has not yet been conclusively clarified and remains the subject of research. In principle, research into the cause of the syndrome is difficult because of the small number of documented cases. Only the genetic basis is considered secure.

Symptoms, ailments & signs

Like any syndrome, Desbuquois syndrome manifests itself in a number of clinical symptoms. As skeletal and cartilage dysplasia, it manifests itself primarily as severe short stature, which in most cases is associated with disproportionality and scoliosis. In scoliosis there is a lateral deviation of the spine, which is caused from the longitudinal axis by a rotation of individual vertebrae around the longitudinal axis or a torsion of the vertebral bodies.

The vertebral bodies are often deformed. The patient’s spine forms arches running in opposite directions and gives the impression of an S-shape. The disproportionality of the patient relates primarily to the extremities, which in many cases appear to be severely shortened. In addition to short stature and progressive scoliosis, there are muscle hypotonia. The generally decreased tone of the muscles can make patients look clumsier than healthy people.

Also, gait disturbances are possible after a certain extent. In most cases, the affected joints can be hyperextended. There is often a dislocation on the finger and radius heads. The face of those affected also shows manifestations. In addition to a microstomy, patients often have a particularly long philtrum. The manifestations of the syndrome are present from birth. Bad posture like scoliosis progresses. The anomalies of the skeleton can already be seen for the patient in the womb.


The clinical heterogeneity of Desbuquois syndrome makes it difficult for the doctor to diagnose. However, the short stature with the shortening of limbs can theoretically be detected in the womb using fine ultrasound. If the diagnosis is made postnatally, the doctor recognizes the clinical symptoms as skeletal dysplasia immediately after birth.

Imaging methods such as X-ray imaging help him with differential diagnosis. Radiologically there are indications of epimetaphyseal dysplasia. Flattened, shortened femoral metaphyses are also often recognizable. The same applies to anomalies in the wrist and abnormalities in the metacarpals or phalanges. Accelerated development of the metacarpal bone is an important diagnostic criterion for the syndrome.

The deformation of the femoral heads and the radial deviation of the index finger are also characteristic. In terms of differential diagnosis, apart from Larsen syndrome, Catel-Manzke syndrome, diastrophic dysplasia and pseudodiastrophic dysplasia must be differentiated. The prognosis for the patient depends on the symptoms and their severity in the individual case.


Most patients with Desbuquois syndrome are primarily short stature. This also damages the spine, which can lead to a curvature. As a rule, the everyday life of the patient is restricted by Desbuquois syndrome. Free movement is often not possible either. The vertebral bodies themselves are severely deformed, and the extremities are shortened.

Due to its unusual appearance, Desbuquois syndrome also leads to depression and inferiority complexes in many people. Teasing can occur in children. In many cases, the affected person’s motor skills are also restricted, so that they appear clumsy. Overstretching the joints can lead to gait disorders and coordination disorders.

As a rule, the patient also suffers from poor posture, which can lead to pain at rest. The treatment of Desbuquois syndrome is purely symptomatic and is primarily aimed at physiotherapy. In this the muscles are built up and the motor skills are strengthened. There are usually no further complications. Pain is controlled with pain relievers. There is no mental disadvantage due to Desbuquois syndrome, so that mental development can progress unrestrictedly.

When should you go to the doctor?

As a rule, in the case of Desbuquois syndrome, a visit to the doctor should be done at an early age. The parents should consult a doctor with their child if the child suffers from short stature and a crooked spine. In this way, complaints and complications in later adulthood can be avoided. In most cases, Desbuquois syndrome also leads to gait problems or poor posture of the body. If these symptoms also occur, a medical examination is also necessary.

Malformations of the extremities can also indicate Desbuquois syndrome and must be investigated. Medical treatment is also necessary if the patient suffers from weakened muscles or if the joints and fingers can be overstretched. As a rule, Desbuquois syndrome can already be recognized by a pediatrician. For this reason, children in particular should take part in regular medical examinations. Treatment of the syndrome can be done through various therapies. As a rule, this can significantly alleviate and reduce the symptoms.

Treatment & Therapy

There is currently no causal therapy for patients with Desbuquois syndrome. So far, not even the causative gene for the disease has been established. Only the identification of the gene would offer the prospect of a causal treatment option with the advances in gene therapy to be expected in the future. The syndrome is currently treated symptomatically.

This treatment can include surgical interventions, for example to correct hand and foot anomalies. Physiotherapy and [occupational therapy | occupational therapy measures]] are recommended against muscle hypotonia. The aim of these treatment steps is to increase muscle tone through targeted training and targeted muscle building. In physiotherapy, stabilizing muscles can also be built up around the joints, which absorb overstretching.

Scoliosis can also be improved through physiotherapy, on the one hand by building up the muscles to stabilize and on the other hand by actively straightening the spine. In addition to physiotherapy, conservative treatment methods such as a corset can also be used to treat scoliosis. If the progression of scoliosis cannot be stopped by conservative methods, operations such as dorsal scoliosis straightening are indicated.

Outlook & forecast

In Desbuquois syndrome, only symptomatic treatment options are available to those affected. A causal therapy for this disease is usually not possible.

If no treatment is given for Desbuquois syndrome, the various malformations extremely limit the patient’s life. There are severe gait disorders, so that those affected are dependent on a walking aid. Bad posture further intensify these disorders. The affected person’s vertebrae are also deformed, which can lead to restrictions in everyday life. Patients have poor muscle tone, which can negatively affect development in children.

Desbuquois syndrome is treated primarily with the help of various surgical interventions that can treat the malformations. This significantly increases the quality of life of the person affected and the gait disorders are alleviated. Physiotherapy can strengthen muscles and joints again so that the patient can cope with everyday life on his own again. There are no particular complications. A complete cure can usually not be achieved, so that the patients are dependent on lifelong therapy. Desbuquois syndrome does not have a negative impact on the life expectancy of those affected.


So far there are no preventive measures available for Desbuquois syndrome.


In the case of this disease, the person concerned is usually first dependent on an early diagnosis with early treatment, so that further complications and complaints can be avoided. If Desbuquois syndrome is not treated, self-healing cannot occur, and the symptoms usually continue to worsen.

Since this is also a congenital disease, genetic counseling can also be carried out if you want to have children. This may prevent Desbuquois syndrome from being passed on to descendants. As a rule, those affected with Desbuquois syndrome are dependent on surgical interventions and also on measures of physiotherapy or physiotherapy to alleviate the symptoms.

The affected person should definitely rest after such an operation and also take care of his body. Exertion or other stressful activities should be avoided in any case. Some of the exercises from physiotherapy or from physiotherapy can also be performed in your own home, which can accelerate healing. In some cases, however, patients also rely on the help of friends and family in everyday life. The life expectancy of the person affected is usually not reduced by this disease.

You can do that yourself

In addition to medical therapy, the individual symptoms of Desbuquois syndrome can be treated independently.

First of all, those affected are advised to undergo comprehensive physiotherapy, which can be supported by special exercises at home. The doctor in charge can answer which measures are possible to stabilize the muscles and joints. A corset helps to reduce the symptoms of scoliosis and to stabilize the spine. The use of aids such as crutches or a wheelchair is sometimes useful and necessary. In the long term, changes in the apartment must be made that enable the person concerned to live a life that is handicapped accessible.

A change of occupation and other changes that may be necessary in the case of Desbuquois syndrome must be worked out together with a specialist and implemented gradually.

In severe cases, however, scoliosis has to be operated on. For those affected, strict bed rest and avoidance of stress and physical activity apply. If the illness causes mental problems, a therapist must be called in. Talking to other sufferers helps to come to terms with the illness and to lead a full life despite the limitations.

Desbuquois Syndrome