Osteodysplastia type Melnick-Needles is a dysplasia of the skeleton. The condition is passed on genetically and is relatively rare. The common abbreviation for the disease is MNS. Typical of Melnick-Needles type osteodysplasia are various visual abnormalities. There are also deformed skull and long bones. Osteodysplastia type Melnick-Needles is sometimes referred to synonymously as osteodysplastia.
What is osteodysplastia type Melnick-Needles?
The full name of the condition refers to the two individuals who first described the disease. They are John Melnick and Carl Needles. The disease is rare, with an estimated incidence of about 1 in 1,000,000. At the present time, there are about 100 known diseased patients. Basically, Melnick-Needles type osteodysplasty is inherited in an x-linked dominant manner. It is striking that male fetuses often die prematurely, namely already in the womb. This shows a so-called embryopathy. Basically, osteodysplasty type Melnick-Needles is associated with deviations in the development of the human skeleton. Other health problems are also among the symptoms of the disease. Osteodysplastia type Melnick-Needles belongs to a special category of diseases called otopalatodigital spectrum disorders. In principle, these disorders are characterized by loss of hearing as a result of deformed bones. This results from a deformation of the tiny bones inside the ear. In addition, disorders in the development of the palate and the bones in the fingers and toes of the affected individuals become apparent.
Causes
Melnick-Needles type osteodysplasia is characterized primarily by genetic causes. In this case, a specific mutation is responsible for the development of the disease, which is located on the so-called FLNA gene. Among other things, this gene is responsible for the control of a certain protein. For example, it plays an important role in building the skeleton by structuring cells and causing them to move and change shape.
Symptoms, complaints, and signs
Melnick-Needles type osteodysplasia is characterized by numerous symptoms. Basically, osteodysplastia type Melnick-Needles is usually the most severe disorder from the otopalatodigital spectrum. Affected individuals usually have short stature and unusually long fingers and toes. In some cases, the extremities exhibit bending. Sometimes the ribs are underdeveloped or irregular, sometimes resulting in respiratory problems. In some patients, certain bones are completely missing. Especially in the face, the typical changes of osteodysplasty type Melnick-Needles are very noticeable. The forehead of affected individuals is often very prominent and covered with hair. In the context of osteodysplasty type Melnick-Needles, the supraorbital bulge is relatively pronounced. In addition, there may be malocclusion of the teeth, exophthalmos, or microgenia. Also the gait of the affected persons often deviates from the normal case in osteodysplasty type Melnick-Needles. Under certain circumstances, patients suffer from deformities of the feet. Also, many affected individuals complain of frequent respiratory infections. In some cases, individuals suffering from Melnick-Needles type osteodysplasia have protruding eyes. The cheeks are often very round in shape, while the lower jaw is small and implies a receding chin. In addition, it is possible for Melnick-Needles type osteodysplasia to show marked asymmetries in the facial region. In addition, loss of hearing or heart defects are possible. As a rule, the symptoms of osteodysplastic type Melnick-Needles are much more pronounced in males than in females. Numerous male affected individuals die before or shortly after birth.
Diagnosis and course of the disease
The diagnosis of Melnick-Needles type osteodysplasia is made with the aid of various methods and techniques of examination. A physician should be consulted if characteristic signs of osteodysplastia type Melnick-Needles appear, often visually. Together with the patient or his parents, the present symptoms are discussed.This is followed by numerous examinations to ensure that Melnick-Needles type osteodysplasty is diagnosed with certainty. For example, an X-ray examination is used. This reveals, for example, an enlarged pit at the back of the skull. A slow closure at the fontanelles, a sclerosis at the base of the skull bone, a hyperostosis of the frontal type as well as the absence of the frontal sinuses are typical identifying features of a diseased person. On the skeleton, there is clear evidence of dysplasia, with long long bones being bent or the ribs appearing in the shape of a band. In some circumstances, the pelvic bone may also be affected by the dysplasia and affected individuals may exhibit coxa valga. In the context of Melnick-Needles type osteodysplasia, scoliosis is also typical. Genetic analysis provides certainty about the presence of Melnick-Needles type osteodysplasia in cases of doubt.
Complications
Osteodysplastia type Melnick-Needles is a very severe hereditary disease that severely limits the life expectancy of affected individuals. Due to the fact that the X chromosome is affected by a mutation, male fetuses experience a much more severe expression of the disease. Male embryos usually die in the womb from various complications. These are a number of many possible embryopathies such as heart defects, malrotation of the intestine, or umbilical cord ruptures. Malrotation is a disturbance in the rotation of the large and small intestines during embryonic development. A complication here can be life-threatening intestinal obstruction. While male fetuses usually do not survive the mother’s pregnancy, the symptoms are milder in female fetuses because the female organism has two X chromosomes. But the affected children still suffer from severe skeletal abnormalities and may also die from various complications. The most common complications are severe infections and failure to thrive. The failure to thrive is caused by impaired nutrient absorption. The prognosis of this malabsorption depends on its severity. However, the most dangerous complications of Melnick-Needles type osteodysplasia are frequent infections due to a weakened immune system. This often results in severe infections of the respiratory tract and ears. The ear infections sometimes lead to hearing loss or even deafness.
When should you go to the doctor?
As a rule, a doctor should be consulted in any case of Melnick-Needles type osteodysplasia, because this disease does not heal itself and, in most cases, worsens the general condition of the patient. An early diagnosis by a doctor can significantly improve the chances of a cure. A physician should be consulted if there is severe bending of the extremities due to Melnick-Needles type osteodysplasty. Likewise, respiratory problems may indicate this disease and lead to severe impairments in the daily life of the affected person. Many patients also suffer from malocclusions of the teeth and thus from toothache or pain in the oral cavity. Likewise, in the case of impaired hearing in doctor should be consulted. Since Melnick-Needles osteodysplasty can also lead to heart problems, it is advisable to attend regular check-ups with a cardiologist. However, the further treatment of this disease depends very much on the manifestations of the respective symptoms and is carried out by the respective specialist. Unfortunately, it cannot be predicted whether this will result in a complete cure.
Treatment and therapy
In principle, treatment of Melnick-Needles type osteodysplasia is symptomatic. In some cases, it is possible to correct the scoliosis during a surgical procedure. The same applies to any malalignment of the jaw that may be present.
Outlook and prognosis
As a genetic disease, Melnick-Needles type osteodysplasty mainly affects the skeleton. Here, deformities of the bones and skull occur. However, the very rarely occurring Melnick-Needles syndrome (MNS) is also recognizable on the face of the affected person. To date, no more than 50 cases have been registered worldwide. This indicates a high prenatal mortality rate. Male fetuses in particular experience premature abortion. Male fetuses die already intrauterine.The cause of this rare malformation is a genetic defect. So far, the pathophysiology of Melnick-Needles type osteodysplasia is unclear. The medical experts only know that it depends on the sex whether the fetus survives or not. Due to the varying complexity of symptoms, the treatment of Melnick-Needles type osteodysplasia is complex and difficult. A generalized prognosis is difficult to make because the severity of the disease may vary among female survivors. Some symptom complexes, such as infections in the respiratory tract or ears, or hearing loss as a result of the same, can be well treated medically. However, the actual symptoms of Melnick-Needles type osteodysplasia can only be treated with interdisciplinary measures. The therapy must be tailored to the individual’s needs. The cooperation of orthopedists, ENT physicians, pediatric specialists and geneticists is usually useful. The life expectancy of those affected with Melnick-Needles type osteodysplasty is severely limited. Complications are to be expected.
Prevention
Osteodysplastia type Melnick-Needles cannot be effectively prevented because the disease is primarily caused by a genetic mutation.
Follow-up
Because treatment for Melnick-Needles type osteodysplasia is adapted to the symptoms that occur, there is no single follow-up for the disease. For example, if a patient has had surgery to correct scoliosis, follow-up care provides for the patient to receive appropriate postoperative follow-up. A stay in rehab and physiotherapy help to strengthen the muscles. Taking antibiotics should prevent infection of the surgical wound. On the other hand, if the condition is more likely to cause heart problems, then regular check-ups by a cardiologist are required. In such cases, patients are also appropriately adjusted with medication to better regulate symptoms such as cardiac arrhythmias. Psychological care is often required as aftercare when patients also develop psychological conditions such as depression due to chronic pain or a steady deterioration in hearing. In many cases, it is also necessary for not only the patient but also their family members to receive care from a family therapist. In such therapy sessions, parents, siblings and other family members learn how to help the child develop so that he or she can lead a near-normal life despite the deformity.
Here’s what you can do yourself
Because Melnick-Needles type osteodysplasia is a genetic condition, the options for self-help are very limited. Therapy, both medical and alternative, can only be symptomatic. The focus is on maintaining the child’s quality of life. Physical closeness and attention by parents and relatives can bring relaxation to the sick child. Mental stimulation by presenting different visual or tactile stimuli also distracts from the consequences of the disease and helps to advance the child’s development. When engaging with the child, it is important to consider the individual state of illness. Another focus should be on psychological support for the parents and other relatives of the affected child. Hospitals and counseling centers can provide information about the various options for psychosocial support for the family. Such support can help deal with the effects of the child’s illness. Various alternative relaxation methods can also be learned that can be used at home. Yoga and meditation can be used to learn how to cope with stress and anxiety. The risk of depression is thus reduced and family caregivers are relieved.
