Floating harbor syndrome is a condition that affects patients from birth. Floating harbor syndrome appears with relatively low average frequency in the population. Typical for the disease are short stature with anomalies in the face. In addition, the speech ability of the person suffering from floating harbor syndrome develops delayed.
What is floating harbor syndrome?
Floating harbor syndrome is referred to by some medical professionals by the synonymous terms floating harbor dwarfism or Pelletier-Leisti syndrome. The latter name refers to the two physicians who first described the condition. They were two physicians from the United States of America. In the course of the disease, the affected patients suffer from malformations in the area of the face as well as a characteristic short stature. The age of the bones is retarded, and the development of speech is also slowed down in the affected children. In addition, numerous other symptoms of the disease appear. Floating Harbor Syndrome is extremely rare. To date, only about 50 cases of the disease have been registered.
Causes
With regard to the currently available research results and studies, no definite statements can yet be made about the causes of the development of floating harbor syndrome. The genesis of the disease remains largely unexplored. However, medical experts assume that floating harbor syndrome is a disease with predominantly genetic causes. In certain families with cases of floating harbor syndrome, it is evident that the disease is passed on to the family descendants via an autosomal dominant inheritance. However, in the majority of cases, floating harbor syndrome occurs sporadically. The prevalence of the disease is currently estimated to be less than 1:1,000,000. Mutations on some genes are conceivable for the development of the disease, but these have not yet been identified.
Symptoms, complaints, and signs
Floating harbor syndrome manifests itself in a variety of typical disease symptoms. Particularly characteristic is the short stature that affected patients suffer from in most cases. On average, people with floating harbor syndrome grow to a maximum height of 140 centimeters. Other characteristic features of the disease can be seen in the face. Here, patients usually exhibit significant abnormalities. The face is characterized by a triangular shape. The nose appears comparatively large and has a prominent nasal bridge. The mouth tends to be wide and has small lips. In contrast, the chin of affected patients is prominent. The eyes are usually deep-set. Often, hyperextension of the joints is easily possible. The teeth of the affected individuals may also be included in the malformations. For example, the patients have an excess number of teeth in the area of the upper jaw. The neck is often relatively short. Occasionally, abnormalities are found in the anatomy of the heart. In addition to the physical signs of floating harbor syndrome, in numerous cases the affected patients suffer from a reduction in intelligence. The development of speech is slow. Individuals affected by floating harbor syndrome have great difficulty expressing themselves through their limited speech. They also frequently nasalize when speaking.
Diagnosis
The typical anatomical abnormalities of individuals affected with floating harbor syndrome often already indicate the presence of the disorder. Most of the symptoms are clearly visible at birth or at a young age. The malformations of the affected patients are apparent to both doctors and parents and give rise to appropriate examinations. The first step is to take a medical history together with the affected patient and the custodians of the minor child, which is performed by a suitable physician. During the patient interview, the attending physician asks about the symptoms and possible factors in the development of the disease. A so-called family history is important, because floating harbor syndrome is a genetic disease. Pediatricians and various specialized doctors are usually involved in making the diagnosis of floating harbor syndrome.Clinical examinations collect evidence for the presence of floating harbor syndrome. In particular, the malformations of the face indicate the disease. Radiographic examinations reveal the severe delays in bone age. A significant role is played by the performance of a differential diagnosis, whereby the floating harbor syndrome is to be distinguished primarily from the monosomy 22q11 as well as the Rubinstein-Taybi syndrome. In addition, the physician has to distinguish the symptoms from Silver-Russell syndrome.
Complications
Floating harbor syndrome results in various complications of varying severity. In most cases, patients suffer from facial deformities and short stature. Most patients also have difficulty speaking. Short stature is the first complication and is immediately noticeable. Those affected can reach a height of only 140 centimeters. The short stature can lead to bullying and teasing, especially among children. However, adults are also affected by floating harbor syndrome. Their self-esteem decreases due to the short stature, which can lead to depression. The quality of life decreases and everyday life is more difficult due to the short stature. The malformations can also be transferred to the patients’ teeth. These can be corrected with surgical procedures. In some cases, the heart is also affected by the anomalies. In this case, various complications can occur that can affect the heart. Due to the floating harbor syndrome, there is a slight mental disability. Ordinary speech is not possible in this case. This barrier can also lead to feelings of inferiority and psychological problems in children and adults. Treatment is not possible for floating harbor syndrome. The speech problems can be solved by exercises. Also, the short stature can be reduced by using growth hormones. No further complications occur in this case.
When should one go to the doctor?
If a child is born with abnormalities and abnormalities of the face, a medical examination should be initiated immediately. In the case of an inpatient birth, this is automatically done by the hospital staff. If the birth takes place without an obstetrician, a visit to the doctor is urgently required. If irregularities occur during the further growth and development process, these should be presented to a doctor. If the relatives and people from the close environment notice unusual physical changes in the child compared to its peers, these should be clarified by a doctor. Reduced growth and a severely shortened neck are considered worrisome and should be examined. In addition, if perceptible emotional and mental problems develop in the child, a physician should be consulted. Refusal to eat, an aggressive demeanor, or withdrawal tendencies are indications of irregularities that should be discussed with a physician. If decreased intelligence is suspected, it is recommended that this observation be presented to a physician. Children with floating harbor syndrome have the ability to hyperextend their joints. This process is considered unnatural. Also unnatural is a severe delay in speech development. A limited ability to speak and a lack of understanding of language give reason to have the child examined and treated by a doctor.
Treatment and therapy
Currently, there is no treatment for the causes of floating harbor syndrome. Instead, floating harbor syndrome is treated symptomatically. Thus, affected children usually receive special education and special support. Physiotherapeutic treatment is also useful under certain circumstances. Sometimes a therapy with growth hormones is considered. Despite the floating harbor syndrome, many patients achieve a comparatively high quality of life and are partially able to manage their daily lives themselves. The abnormalities in the face become increasingly less noticeable with increasing age. Regular examinations by the dentist control the number and condition of the teeth, so that prompt correction is possible.
Outlook and prognosis
The outlook for floating harbor syndrome, which occurs rarely, is poor because of the variety and severity of symptoms.Short stature, speech problems and changes in facial structure are usually permanent consequences of this syndrome. A therapy is not possible so far. At best, therapeutic attempts can be made with growth hormones. This can mitigate the short stature to some extent. Since this disease is mostly genetic and congenital, only gene therapy could improve the prognosis of floating harbor syndrome. So far, however, interests to develop appropriate therapies are not very pronounced due to the rarity of this syndrome. This worsens the prognosis. It should also be noted that this genetic alteration could harm further offspring. In addition, differentiation from other diseases is often difficult. Another problem is that complications can arise in the course of the disease. The short stature and the defining facial features can lead to bullying and teasing among affected children. Depression can be the result. The prognosis for successful treatment of such depression is also difficult. After all, the problems in everyday life remain for life. The appearance in floating harbor syndrome can be at least partially improved surgically if the teeth are misaligned. Anomalies of the heart have worse prospects. Something can be done about speech problems. The extent to which it can be successful varies from individual to individual.
Prevention
Floating harbor syndrome cannot yet be prevented. For preventive measures, there is a lack of knowledge about the exact causes to counteract at this point. Instead, early diagnosis of floating harbor syndrome is important to provide adequate support to affected children in a timely manner.
Follow-up
In most cases, there are no special aftercare options available to the affected person with floating harbor syndrome. However, these are usually not necessary either, as the symptoms can only be treated purely symptomatically. However, if the affected person wishes to have children, genetic counseling is recommended to avert a possible transmission of the syndrome in advance. The anomalies and malformations in this disease are treated with the help of surgical interventions. There are no particular complications, but the patient should always rest and take care of his body after the operation. The patient should refrain from exertion or other stressful activities. Even after a successful operation, regular check-ups are necessary to guarantee complete healing. In many cases it is also necessary to take hormones. It is important to ensure that the hormones are taken regularly and correctly. The doctor’s instructions should always be followed, and the doctor should be consulted in cases of doubt. The malformations of the teeth can also be relatively well alleviated by regular check-ups. As a rule, floating harbor syndrome does not reduce the patient’s life expectancy.
What you can do yourself
The options for self-help in floating harbor syndrome are limited to improving the quality of life by maintaining as positive a basic attitude as possible, leading a healthy lifestyle, and optimizing leisure activities to promote enjoyment of life. The disease gives the patient no possibility to achieve relief or recovery by his own efforts or on the basis of the natural self-healing powers. The physical abnormalities can be corrected by a surgeon. Nevertheless, despite great efforts, a visual change remains in direct comparison with healthy people. Therefore, the patient should find a mental way to still achieve a good quality of life. Since the floating harbor syndrome is also a great challenge for the relatives, attention should also be paid in everyday life to the emotional strengthening and building confidence of the family members. They experience a strong burden and adjustment of their everyday life by the necessary consideration as well as care or support of the patient. For all involved, well-being improves when they pursue a healthy diet, adequate exercise, and the reduction of stressors. The immune system is strengthened and inner balance is established. Attention should be paid to methods that are executable according to individual specifications and do not represent an excessive demand.Adequate rest and sparing are important for all to achieve an improvement in their quality of life.
