All You Need to Know About Gordon Syndrome

Gordon syndrome is a rare genetic disorder that belongs to the distal arthrogryposis group. Among other things, it is associated with joint stiffness, cleft palate and other mobility restrictions and requires comprehensive treatment.
What is Gordon Syndrome?
Gordon syndrome is a genetic disease associated with damage to the joints and the entire musculoskeletal system. The rare disease does not result in any cognitive impairments, but treatment is still necessary to get the diverse symptoms under control. Preventive measures are limited to prenatal examinations of parents and child.
Causes
According to abbreviationfinder.org, the syndrome itself is characterized by stiffening of the joints, including the arms, legs and knees, elbows, wrists and ankles. If the disease occurs in children, the fingers often become stiff and remain in a bent position. Patients suffer accordingly from further limitations in mobility and can hardly carry out fine motor tasks.
Since Gordon syndrome is a genetic defect, the cause is hereditary. Affected are children who inherit an autosomal dominant trait from both father and mother or who inherit a dominant genetic disorder from one parent. The risk of inheriting the condition is 50 percent, regardless of the gender of the child.
Exudative enteropathy, also known as Gordon syndrome, occurs as a result of a wide variety of diseases. These include Whipple ‘s disease , Crohn’s disease, ulcerative colitis, lymphogranuloomatose, and Ménétrier’s syndrome. The causes for the development of the respective underlying diseases can vary greatly and range from disorders of the gastrointestinal tract to injuries.
The Gordon system itself occurs as a result of a massive loss of protein, more precisely due to a disturbed lymphatic drainage or increased lymph formation, which leads to a loss of protein in the intestinal lumen.
Symptoms, Ailments & Signs
Gordon syndrome can be diagnosed at birth in most cases. The characteristic physical symptoms such as cleft palate or clubfoot are clear indicators and, in conjunction with a clinical evaluation and the parents’ medical records, allow for a clear diagnosis. If the symptoms are not noticed until later in life, Gordon syndrome can often be diagnosed by those affected themselves.
Diagnosis & History
Since the symptoms vary in severity and can be assigned to different underlying diseases, diagnosis by a doctor is essential. The specialist first talks to the patient and narrows down the symptoms that occur. What complaints arise? How serious are these complaints?
Are there similar illnesses in the family? All these questions must first be clarified before the physical examination begins. The diagnosis can then be made using typical examination procedures for diseases of the gastrointestinal tract. In addition to blood tests, listening to the abdomen and palpation of the painful region, stool and saliva samples are taken, which are examined in the laboratory for the respective pathogens.
Depending on the suspicion, X -rays and ultrasound examinations can also be used to narrow down the causes. The diagnosis of exudative enteropathy is usually made using a Gordon test. This is a procedure that detects diseases of the gastrointestinal tract and thus enables comprehensive treatment.
The Gordon test itself is carried out using a labeled polyvinylpyrrolidone, with the radioactive material used being tested for the pathogens after it has been excreted. Alternatively, the process is also often carried out with the help of other active ingredients such as Cr human serum albumin. Through this and through the anamnesis mentioned at the beginning and further examinations, the Gordon syndrome and the degree of severity in which it occurs can be clearly diagnosed.
Complications
As a rule, Gordon syndrome can be diagnosed shortly after birth, so that early treatment is possible. The patient has suffered from malformations and complaints since birth. So-called cleft palate and clubfoot often occur. These complaints can severely restrict everyday life and lead to mobility problems.
Speech disorders also occur, which can lead to bullying and teasing, especially in young children. In most cases, the motor and mental development of the child is unaffected by Gordon syndrome. Speech disorders can be treated relatively well with the help of therapies, with no further complications occurring.
Certain malformations are removed and treated with the help of surgical procedures. It is not always possible to treat and reconstruct the damaged bones or joints. It is not uncommon for patients to be dependent on walking aids or the help of other people in everyday life.
Painkillers are used for severe pain, but these can damage the stomach in the long run. Parents are also often affected by the psychological stress caused by Gordon syndrome.
When should you go to the doctor?
A doctor’s visit is always necessary for Gordon syndrome. This disease does not heal itself. The doctor can significantly improve the patient’s quality of life. In most cases, the symptoms of the syndrome are visible before birth or immediately after birth.
An additional visit to the doctor for diagnosis is therefore not necessary. However, the doctor should be consulted if the symptoms make everyday life difficult for the child or lead to problems with coordination and concentration.
Regular examinations can often prevent further complications and significantly increase the life expectancy of those affected. Further visits to the doctor are necessary if there are broken bones or other problems with the bones.
Since parents and relatives often suffer from psychological problems or depression as a result of Gordon syndrome, psychological care is often necessary. As a rule, the symptoms can be reduced so that the person concerned can lead a normal life.
Treatment & Therapy
The treatment of Gordon syndrome depends on the type and intensity of the respective symptoms and side effects, which can vary greatly from person to person. Depending on the physical impairments, various specialists such as paediatricians, speech pathologists, surgeons and physiotherapists are then consulted. Surgical procedures are a common means of correcting physical abnormalities such as clubfoot or joint stiffness and reconstructing malformed or damaged joints.
Along with this, physiotherapy can be useful in order to increase the mobility of previously damaged areas of the body. Further measures depend on the symptoms that occur. Patients suffering from damage to the spine and back can cope with the pain with the help of strong painkillers.
On the other hand, patients who suffer from ptosis, i.e. drooping of the eyelids, can have surgery. The same applies to a shortened neck, cryptorchidism and similar damage to the musculoskeletal system. The relatives are often treated therapeutically and given supportive advice.
Since those affected are usually children or infants, the parents are cared for from the time the child is born and referred to the responsible specialists.
Outlook & Forecast
Gordon syndrome can be treated well. If the protein loss in the intestinal lumen is detected early, the symptoms can be effectively alleviated with medication. The symptoms subside within a few days without any long-term effects to be expected. In individual cases, gastrointestinal problems such as fatty stool can occur for a short time. These symptoms also subside quickly if the therapy works and the loss of protein can be stopped.
If this is not successful, serious health problems can occur as a result of Gordon syndrome. Cramps and muscle paralysis can occur, which must be treated immediately. In general, however, Gordon syndrome usually takes a positive course. If the patient is physically fit and has no other health problems, there should be no further problems after the therapy.
Preventive measures prevent recurrence of Gordon syndrome. Life expectancy is not reduced by intestinal protein loss syndrome. However, the quality of life can decrease in the medium term, since the patient often has to be hospitalized during therapy and suffers from physical complaints such as the gastrointestinal problems mentioned and cramps. If the syndrome is not treated, it can take a serious course and sometimes even lead to the death of the patient.
Prevention
Because Gordon syndrome is a genetic condition, preventive measures are limited. Pregnant women who suffer from the disease themselves have the option of having the unborn child tested for the genetic defect and then taking further measures. In the best case, you can start treating the respective symptoms shortly after birth and enable the baby to receive comprehensive treatment.
Other specialists are often called in to look after the parents and often accompany the sick child for many years. If the symptoms that occur are marginal, preventive measures such as regular physiotherapy and medication can at least contain the symptoms later in life.
Aftercare
Aftercare options are severely limited in Gordon syndrome. It is a genetic disease that cannot be fully treated. Only a purely symptomatic treatment is possible, whereby those affected are usually dependent on lifelong therapy.
In order to prevent the syndrome from being passed on to offspring, genetic counseling should be carried out if you wish to have children. In many cases, those affected are dependent on surgical interventions on the affected joints. The patient should always rest and recover after such an operation.
In any case, you should refrain from exertion or sporting activities. Stress should also be avoided. Furthermore, physiotherapy measures are often necessary to treat Gordon syndrome. Some of the exercises from this therapy can also be performed at home to speed up healing.
Patients depend on the help of their fellow human beings, friends and family to get by in everyday life. Loving care always has a positive effect on the further course of the disease. In most cases, the life expectancy of those affected is not affected by Gordon syndrome.
You can do that yourself
The treatment of Gordon syndrome can be supported by various means of self-help. As a rule, patients are dependent on physiotherapy and physiotherapy after the surgical intervention. The exercises from these therapies can often be carried out at home, which speeds up healing. The same applies to exercises from speech therapy.
Those affected are often severely restricted in their everyday lives and need permanent help. Ideally, this should be done by your own family or friends and support the person concerned in everyday life. Talking to people you trust can often alleviate and avoid possible depression or other mental upsets.
Contact with other people affected by Gordon syndrome can also be worthwhile here, as this leads to an exchange of information, which may make everyday life easier and significantly improve the patient’s quality of life.
Taking strong painkillers can damage the stomach. For this reason, painkillers should only be taken if they are necessary and the doctor has recommended them.