Gordon Syndrome

The Gordon Syndrome is a rare genetic disorder that belongs to the group of distal arthrogryposis. It is associated with joint stiffness, cleft palate and other mobility restrictions and requires extensive treatment.

What is Gordon Syndrome?

Gordon syndrome is a genetic disease that is associated with damage to the joints and the entire musculoskeletal system. The rare disease does not result in cognitive impairments, but treatment is still necessary to get the manifold symptoms under control. Preventive measures are limited to prenatal examinations of the parent and child.

causes

The syndrome itself is characterized by stiffening of the joints, including the arms, legs and knees, elbows, wrists, and ankles. When the disease occurs in children, the fingers often stiffen and remain in a bent position. Accordingly, the sick suffer from further restrictions 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 their father and mother or who inherit a dominant genetic disorder from one of their parents. The risk of inheriting the disease is 50 percent, regardless of the child's gender.

Exudative enteropathy, also known as Gordon syndrome, occurs as a result of various diseases. These include Whipple's disease, Crohn's disease, ulcerative colitis, lymphogranuloomatos and Ménétrier's syndrome. The causes for the development of the respective underlying diseases can vary widely 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 impaired lymph drainage or increased lymph formation, which leads to a loss of protein in the intestinal lumen.

Symptoms, ailments & signs

In most cases, Gordon syndrome can be diagnosed at birth. 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 a clear diagnosis. If the symptoms are not noticed until later in life, Gordon syndrome can often be diagnosed by those affected.

Diagnosis & course

Since the symptoms vary in severity and can be assigned to different underlying diseases, diagnosis by a doctor is essential. The specialist will first talk to the patient and narrow down the symptoms that may arise. What complaints do you have? How severe are these complaints?

Do you have similar illnesses in your family? All of these questions need to be clarified before the physical exam 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 cause. The diagnosis of exudative enteropathy is usually made by a Gordon test. This is a method that detects diseases of the gastrointestinal tract and thus enables comprehensive treatment.

The Gordon test itself is carried out with the help of a labeled polyvinylpyrrolidone, whereby the radioactive material used is checked for the pathogen after it has been eliminated. Alternatively, the procedure is also often carried out with the help of other active substances such as Cr-human serum albumin. Through this and through the anamnesis mentioned at the beginning and further examinations, the Gordon syndrome and the 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. The so-called cleft palate and clubfoot often occur. These complaints can extremely restrict everyday life and lead to mobility problems.

Speech disorders also occur, which can lead to bullying and teasing, especially in young children. The motor and mental development of the child is in most cases unaffected by Gordon syndrome. Speech disorders can be treated relatively well with the help of therapies, with no further complications.

Certain malformations are removed and treated with the help of surgical interventions. It is not always possible to treat and reconstruct the damaged bones or joints. Not infrequently, the patients are then dependent on walking aids or on the help of other people in everyday life.

Painkillers are used for severe pain, but they cause damage to the stomach in the long term. The parents are also often affected by the psychological stress of Gordon syndrome.

When should you go to the doctor?

A doctor's visit is necessary in any case with Gordon syndrome. This disease does not self-heal. The doctor can significantly improve the patient's quality of life. In most cases, the symptoms of the syndrome are already visible before birth or immediately after birth.

For this reason, an additional visit to the doctor for diagnosis is not necessary. However, the doctor should be consulted if the symptoms make everyday life difficult for the child or lead to impaired coordination and concentration.

Regular examinations can often avoid further complications and significantly increase the life expectancy of the person affected. Further visits to the doctor are necessary if there are fractures or other problems with the bones.

As the parents and relatives often suffer from psychological complaints or depression due to Gordon syndrome, psychological care is often necessary. As a rule, the symptoms can be limited so that the person affected can lead an ordinary life.

Doctors & therapists in your area

Treatment & Therapy

The treatment of Gordon syndrome depends on the type and intensity of the symptoms and accompanying symptoms, which can vary greatly from person to person. Depending on the physical impairment, various specialists such as paediatricians, speech pathologists, surgeons and physiotherapists are called in. Surgical interventions are a common means of correcting physical abnormalities such as clubfoot or joint stiffness, and of reconstructing malformed or damaged joints.

Along with this, physiotherapy can be useful to increase the mobility of the previously damaged areas. Further measures depend on the complaints that arise. Patients suffering from damage to the spine and back can manage the pain with the help of strong pain relievers.

On the other hand, patients who suffer from ptosis, such as drooping of the eyelids, may consider surgery. The same applies to a shortened neck, cryptorchidism and similar damage to the musculoskeletal system. The relatives are often given therapeutic care and advice.

Since those affected are usually children or infants, the parents are looked after from the time the child is born and referred to the relevant specialist.

Outlook & forecast

Gordon syndrome can be treated well. If the loss of protein in the intestinal lumen is detected early on, the symptoms can be effectively alleviated with medication. The symptoms subside within a few days without any long-term consequences. In individual cases, gastrointestinal complaints such as fatty stools can occur briefly. These complaints also subside quickly, provided that the therapy works and the protein loss can be stopped.

If this is not done successfully, it can lead to considerable health problems 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 symptoms after the therapy.

Preventive measures prevent Gordon syndrome from recurring. Life expectancy is not reduced by the intestinal protein loss syndrome. However, the quality of life can decrease in the medium term, as the patient often has to be hospitalized during therapy and suffers from physical complaints such as gastrointestinal problems and cramps. If left untreated, the syndrome can be severe and may even result in patient death.

prevention

Because Gordon syndrome is a genetic disorder, 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 scenario, treatment of the respective complaints can be started shortly after birth and the infant can receive comprehensive treatment.

Often other specialists are called in to look after the parents and often accompany the sick child for many years. If the symptoms are marginal, preventive measures such as regular physiotherapy and medication can at least contain the symptoms later in life.

Aftercare

Follow-up care options are severely limited in Gordon syndrome. It is a genetic disease that cannot be fully treated. Only purely symptomatic treatment is possible, and those affected are usually dependent on lifelong therapy.

In order to prevent the syndrome from being passed on to offspring, genetic counseling should be provided if you want to have children. In many cases, those affected depend 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. In addition, physical therapy measures are often necessary to treat Gordon syndrome. Some of the exercises from this therapy can also be performed in your own home to accelerate healing.

Patients are dependent on the help of their fellow human beings, friends and family to cope with everyday life. Loving care always has a positive effect on the further course of the disease. In most cases, Gordon syndrome does not affect life expectancy.

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 interventions. The exercises from these therapies can often be performed in your own home, which speeds up healing. The same applies to exercises from speech therapy.

Often those affected are severely restricted in their everyday life and need permanent help. Ideally, this should be done by your own family or friends and support the person concerned in everyday life. Conversations with people you trust can often alleviate and avoid possible depression or other psychological disorders.

Contact with other sufferers of Gordon Syndrome can also be worthwhile, as this leads to an exchange of information that can possibly make everyday life easier and significantly improve the patient's quality of life.

The use of strong pain relievers can damage the stomach. For this reason, pain relievers should only be taken when they are necessary and advised by the doctor.