Desbuquois syndrome is a rare and congenital osteochondrodysplasia. The leading symptom is severe short stature with spinal curvature and shortened extremities. In addition to physiotherapeutic measures, surgical correction procedures are primarily used for treatment.
What is Desbuquois syndrome?
Osteochondrodysplasias are the disease group of skeletal dysplasias and cartilage dysplasias. These tissue defects include Desbuquois syndrome, also known as Desbuquois dysplasia or micromelic dwarfism. As with any syndrome, Desbuquois syndrome is a complex of different symptoms. The leading symptom of the disease is scoliotic short stature with hyperextensible joints. The disease was first described around the middle of the 20th century. G. Desbuquois from Tours is considered the first describer and gave the name to the phenomenon. The symptom complex seems to be closely related to Larsen’s syndrome or at least strongly resembles this disease clinically. However, contrary to what has been suspected in the past, Larsen syndrome and Desbuquois syndrome do not appear to be manifestations of the same disease because different genes are involved. The age of manifestation for the symptoms of Desbuquois syndrome is a prenatal or immediate postnatal age. The prevalence of the disease is extremely low, with an estimated incidence of less than one case per 1000000 people.
Causes
Desbuquois syndrome does not always appear to occur sporadically but sometimes appears to be associated with familial clustering. Research suggests a genetic cause associated with familial predisposition. The hereditary form of the disease appears to be based on an autosomal recessive mode of inheritance. A mutation has been observed in the cases documented so far. This mutation affects genes with gene locus on chromosome 17q25.3. Mutations on this gene locus have been associated with 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 therefore 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 certain.
Symptoms, complaints, and signs
Like any syndrome, Desbuquois syndrome manifests itself in a number of clinical symptoms. As a skeletal and cartilaginous dysplasia, it manifests primarily in severe short stature, which in most cases is associated with dysproportionality and scoliosis. In scoliosis, there is a lateral deviation of the spine caused by rotation of individual vertebrae around the longitudinal axis or torsion of the vertebral bodies. The vertebral bodies are often deformed. The spine of the patients forms opposite arches and gives the impression of an S-shape. The dysproportionality of the patients refers mainly to the extremities, which in many cases appear severely shortened. In addition to the short stature and progressive scoliosis, muscle hypotonia is present. The generally decreased tone of the muscles can make patients appear clumsier than healthy individuals. Gait disturbances are also conceivable above a certain level. In most cases, the joints of the affected persons can be hyperextended. The heads of the fingers and radii are often dislocated. The face of the affected person also shows manifestations. In addition to a microstomy, patients often have a particularly long philtrum. The manifestations of the syndrome are already present from birth. Malpositions such as scoliosis progress. The anomalies of the skeleton are seen for the patients already in the womb.
Diagnosis
The clinical heterogeneity of Desbuquois syndrome makes diagnosis difficult for the physician. However, short stature with shortening of limbs can theoretically be detected in utero by fine ultrasound. If the diagnosis is made postnatally, the physician will recognize the clinical symptoms immediately after birth as skeletal dysplasia. Imaging techniques such as X-ray imaging help him in the differential diagnosis.Radiologically, there is evidence of epimetaphyseal dysplasia. Flattened shortened femoral metaphyses are also frequently recognizable. The same applies to anomalies of the carpus and abnormalities of the metacarpal or phalanges. Developmental acceleration on the metacarpal bone is an important diagnostic criterion for the syndrome. Deformation of the femoral heads and radial deviation of the index finger are also characteristic. Differentially, Catel-Manzke syndrome, diastrophe dysplasia, and pseudodiastrophe dysplasia must be differentiated in addition to Larsen syndrome. The prognosis for patients depends on the symptoms and their severity in each individual case.
Complications
Most patients with Desbuquois syndrome suffer primarily from short stature. This also damages the spine, so that curvature may occur. As a rule, the patients’ everyday life is restricted by Desbuquois syndrome. Free movement is also often not possible. There is severe deformation of the vertebral bodies themselves and the extremities are shortened. Because of its unusual appearance, Desbuquois syndrome also leads to depression and inferiority complexes in many people. In children, teasing may occur. In many cases, the affected person’s motor skills are also impaired, making him or her appear clumsy. Overextension of the joints may cause gait disturbances and coordination problems. Usually, the patient also suffers from poor posture, which can lead to pain at rest. The treatment of Desbuquois syndrome is purely symptomatic and is mainly aimed at physiotherapy. In this, the muscles are built up and the motor function is strengthened. There are usually no further complications. Pain is controlled with painkillers. There is no mental disadvantage due to Desbuquois syndrome, so mental development can proceed unrestricted.
When should you see a doctor?
As a rule, in Desbuquois syndrome, the visit to the doctor should happen at an early age. In this regard, parents should visit a doctor with their child if the child suffers from short stature and a curved spine. This can prevent discomfort and complications later in adulthood. In most cases, Desbuquois syndrome also causes gait problems or poor posture of the body. If these complaints also occur, a medical examination is also necessary. Malformations of the extremities can also indicate Desbuquois syndrome and must be examined. Furthermore, medical treatment is necessary if the patient suffers from weakened muscles or if the joints and fingers can be hyperextended. Usually, Desbuquois syndrome can be detected by a pediatrician. For this reason, children in particular should attend regular checkups with their doctor. The syndrome can be treated by various therapies. As a rule, this can significantly alleviate and reduce the symptoms.
Treatment and therapy
A causative therapy does not yet exist for patients with Desbuquois syndrome. So far, not even the causative gene for the disease has been determined. Only the identification of the gene would hold out the prospect of a causal treatment option with future expected advances within gene therapy. Currently, the syndrome is treated purely symptomatically. This treatment may include surgical intervention, such as to correct the hand and foot abnormalities. Physical and [occupational therapy|ergotherapy]] are recommended against muscle hypotonia. These treatment steps are aimed at increasing muscle tone through targeted training and equally targeted muscle building. Physiotherapy can also build stabilizing muscles around the joints to absorb hyperextension. Scoliosis can also be improved by physiotherapy, firstly by building up stabilizing muscles and secondly 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, surgery such as dorsal scoliosis straightening is indicated.
Outlook and prognosis
In Desbuquois syndrome, only symptomatic treatment options are available to the affected individual.A causal therapy of this disease is usually not possible. If no treatment is given for Desbuquois syndrome, the various malformations extremely restrict the patient’s life. There are severe gait disturbances, so that the affected persons are dependent on a walking aid. Malpositions further aggravate these disorders. The affected person’s vertebrae are also deformed, which can lead to restrictions in everyday life. Patients suffer from weak muscle tone, which can have a negative effect on development in children. The treatment of Desbuquois syndrome is primarily carried out with the help of various surgical interventions, which can treat the deformities. This significantly improves the quality of life of the affected person and alleviates the gait disorders. Physiotherapy can strengthen muscles and joints again, so that the patient can master his daily life on his own again. There are no particular complications. A complete cure can usually not be achieved, so that patients are dependent on lifelong therapy. Desbuquois syndrome has no negative impact on the life expectancy of the affected person.
Prevention
Preventive measures are not yet available for Desbuquois syndrome.
Follow-up
With this disease, the affected person usually depends first on early diagnosis with early treatment to prevent further complications and discomfort. If Desbuquois syndrome is not treated, it may not heal itself, with symptoms usually continuing to worsen. Since it is also a congenital disease, genetic counseling can also be performed if the patient wishes to have children. This may prevent inheritance of Desbuquois syndrome to descendants. As a rule, those affected by Desbuquois syndrome rely on surgical interventions and also on measures of physiotherapy or physical therapy to alleviate the symptoms. In any case, the affected person should rest and also take care of his body after such a surgical intervention. Efforts or other stressful activities should be avoided in any case. Some of the physiotherapy exercises can also be performed at home, which can accelerate the healing process. In some cases, however, patients are also dependent on the help of friends and family in everyday life. The life expectancy of the affected person is usually not reduced by this disease.
What you can do yourself
Accompanying medical therapy, the individual symptoms of Desbuquois syndrome can be treated independently. First of all, sufferers are recommended to undergo comprehensive physiotherapy, which can be supported by special exercises at home. The medical practitioner in charge can answer the question of which measures can be taken to stabilize the muscles and joints. A corset helps to reduce the discomfort of scoliosis and stabilize the spine. The use of aids such as crutches or a wheelchair is also sometimes useful and necessary. In the long term, changes must then sometimes also be made in the home to enable the affected person to live a life suitable for the disability. A change of profession and other changes that may be necessary in Desbuquois syndrome must be worked out together with a specialist and implemented gradually. In severe cases, however, scoliosis requires surgery. For the affected person, strict bed rest and avoidance of stress and physical exercise then apply. If the disease causes psychological problems, a therapist must be consulted. Talking to other sufferers helps them to come to terms with the disease and to lead a fulfilling life despite the limitations.
