Gordon syndrome is a rare genetic disorder that belongs to the distal arthrogryposis group. It is associated with joint stiffness, cleft palate, and other mobility limitations, among other symptoms, and requires extensive treatment.
What is Gordon syndrome?
Gordon syndrome refers to a genetic disorder associated with damage to the joints and overall musculoskeletal system. The rare disease does not result in cognitive impairment, but treatment is still necessary to manage the multifaceted symptoms. Preventive measures are limited to prenatal screening of parents and child.
Causes
The syndrome itself is characterized by stiffness of the joints, including the arms, legs, and knees, elbows, wrists, and ankles. If the condition occurs in children, the fingers often also stiffen and remain in a flexed position. Sufferers accordingly suffer from further restrictions in mobility and can hardly perform fine motor tasks. Since Gordon syndrome is a genetic defect, the cause is hereditary. Affected children are those who inherit an autosomal dominant trait from both the father and the mother or who inherit a dominant genetic disorder from one parent. The risk of inheriting the disorder is 50 percent, regardless of the sex of the child. Also known as Gordon syndrome, exudative enteropathy occurs as a result of a wide variety of diseases. These include Whipple’s disease, Crohn’s disease, ulcerative colitis, lymphogranuloomatous and Ménétrier’s syndrome. The causes of each underlying disease can vary widely, ranging from disorders of the gastrointestinal tract to injury. Gordon’s system itself occurs as a result of massive protein loss, more specifically due to impaired lymphatic drainage or increased lymphatic formation, which leads to protein loss into the intestinal lumen.
Symptoms, complaints, and 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, when combined with a clinical evaluation and the parents’ medical records, allow a definitive diagnosis. If the symptoms are not noticed until later in life, Gordon syndrome can often be diagnosed by the affected individuals themselves.
Diagnosis and course
Because symptoms vary in severity and can be attributed to different underlying diseases, diagnosis by a physician is essential. The specialist first conducts a discussion with the patient and thus narrows down the symptoms that occur. What are the symptoms? How severe are these complaints? Are there similar diseases in the family? All these questions must be answered 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, an examination of 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-ray and ultrasound examinations may also be used to narrow down the causes.The diagnosis of exudative enteropathy is usually made by a Gordon test. This is a procedure that detects diseases of the gastrointestinal tract and thus enables comprehensive treatment. The Gordon test itself is performed using a labeled polyvinylpyrrolidone, and the radioactive material used is tested for the pathogens after they have been eliminated. Alternatively, the procedure is most recently often performed using other agents such as Cr-human serum albumin. By this and by history taking and further investigations mentioned at the beginning, Gordon syndrome and the severity by which it occurs can be clearly diagnosed.
Complications
Usually, Gordon syndrome can be diagnosed shortly after birth, allowing early treatment. In this case, the patient already suffers from malformations and complaints since birth. It often comes to the so-called cleft palate and clubfoot. These complaints can extremely restrict everyday life and lead to mobility disorders.Speech disorders also occur, which can lead to bullying and teasing, especially in children at a young age. The child’s motor and mental development remains unaffected by Gordon syndrome in most cases. Speech disorders can be treated relatively well with therapies, with no further complications. Certain malformations are removed and treated with the help of surgical procedures. In this case, treatment and reconstruction of the damaged bones or joints is not possible in every case. It is not uncommon for patients to then be dependent on walking aids or the help of other people in everyday life. In case of severe pain, painkillers are used, which, however, damage the stomach in the long run. Parents are also often affected by Gordon syndrome due to the psychological burden.
When should one go to the doctor?
A visit to the doctor is necessary in any case of Gordon syndrome. There is no self-healing in this disease. 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. For this reason, an additional visit to the doctor for diagnosis is not necessary. However, the doctor should be consulted if the complaints complicate the child’s everyday life or lead to disturbances in coordination and concentration. Regular examinations can often prevent further complications and significantly increase the life expectancy of the affected person. Further visits to the doctor are necessary if fractures or other complaints of the bones occur. Since parents and relatives also frequently suffer from psychological complaints or depression due to Gordon syndrome, psychological care is also frequently necessary. Usually, the symptoms can be limited so that the affected person can lead an ordinary life.
Treatment and therapy
Treatment of Gordon syndrome is based on the nature and intensity of the particular symptoms and accompanying symptoms, which can vary greatly from person to person. Depending on the physical impairments, various specialists such as pediatricians, speech-language pathologists, surgeons, and physical therapists are then consulted. Surgery is a common means of correcting physical abnormalities such as clubfoot or joint stiffness and reconstructing malformed or damaged joints. This may be accompanied by physical therapy to increase 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 manage the pain with the help of strong painkillers. On the other hand, patients suffering from ptosis, as a drooping of the eyelids, may consider surgical intervention. The same applies to a shortened neck, cryptorchidism and similar damage to the musculoskeletal system. The relatives often receive therapeutic care and supportive counseling. Since those affected are usually children or infants, parents are cared for from the time of the child’s birth and referred to the appropriate specialists.
Outlook and prognosis
Gordon syndrome can be well treated. If the loss of protein into the intestinal lumen is detected early, symptoms can be effectively relieved with medication. The symptoms resolve within a few days, with no late sequelae. In individual cases, gastrointestinal complaints such as fatty stools may occur for a short time. These symptoms also subside quickly if the therapy is effective and the protein loss can be stopped. If this does not succeed, Gordon’s syndrome can lead to considerable health problems. Cramps and muscle paralysis may occur, which must be treated immediately. In general, however, Gordon’s syndrome usually takes a positive course. If the patient is physically fit and has no other health problems, there should be no further complaints after therapy. Preventive measures prevent a recurrence of Gordon’s syndrome. Life expectancy is not reduced by intestinal protein loss syndrome. However, the quality of life may decrease in the medium term, as the patient often has to be hospitalized during the therapy and suffers from physical complaints such as gastrointestinal problems and cramps mentioned above.If the syndrome is not treated, it can take a severe course and may even lead to the patient’s death.
Prevention
Because Gordon syndrome is a genetic disorder, preventive measures are limited. Pregnant women who have the condition themselves have the option of having their unborn child tested for the genetic defect and then taking further action. In the best case, it is possible to start treating the respective symptoms shortly after birth and to provide the infant with comprehensive treatment. Often, other specialists are consulted here, who care for 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 administration of medication can at least contain the complaints later in life.
Aftercare
The options for follow-up care are severely limited in Gordon syndrome. It is a genetic disease and therefore cannot be fully treated. Only purely symptomatic treatment is possible, and affected individuals are usually dependent on lifelong therapy. In order to prevent the syndrome from being passed on to offspring, genetic counseling should be provided if the patient wishes to have children. In many cases, affected individuals rely on surgical procedures on the affected joints. The patient should always rest and recover after such an operation. Exertion or sporting activities should be avoided in any case. Stress should also be avoided. Furthermore, physiotherapy measures are often necessary to treat Gordon’s syndrome. Some of the exercises from this therapy can also be performed in the patient’s own home to speed up the healing process. Patients depend on the help of their peers, 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, the life expectancy of the affected person is not affected by Gordon syndrome.
What you can do yourself
The treatment of Gordon syndrome can be supported by various means of self-help. Patients usually rely on physical therapy and physiotherapy after surgical procedures. In this regard, the exercises from these therapies can often be performed in the patient’s own home, which accelerates healing. The same is true for exercises from speech therapy. Often, the affected persons are severely restricted in their everyday life and need permanent help. Ideally, this should be provided by the patient’s own family or friends and support the affected person in everyday life. Often, conversations with familiar people can alleviate and avoid possible depression or other psychological upsets. It can also be worthwhile to get in touch with other people affected by Gordon’s syndrome, as this can lead to an exchange of information that may make everyday life easier and significantly improve the patient’s quality of life. Taking strong painkillers can cause damage to the stomach. For this reason, painkillers should only be taken if they are necessary and the doctor has advised them.