MNS stands for Melnick-Needles type osteodysplasty. Osteodysplasty of the Melnick-Needles type is skeletal dysplasia. The disease is passed on genetically and is relatively rare. The common abbreviation for the disease is MNS. Various optical deviations are typical of the Melnick-Needles osteodysplasty type. Deformed skull and tubular bones also occur. Osteodysplasty of the Melnick-Needles type is sometimes also synonymously referred to as osteodysplasty. See AbbreviationFinder for abbreviations related to MNS.
What is Melnick Needles Osteodysplasty?
The full name of the disease refers to the two people who first described the disease. These are John Melnick and Carl Needles. The disease is rare, with an estimated frequency of about 1:1,000,000.
At this point in time, about 100 sick patients are known. Basically, the osteodysplasty type Melnick-Needles is inherited in an x-linked dominant manner. It is striking that male fetuses often die early, namely in the womb. This is what is known as embryopathy.
In principle, osteodysplasty of the Melnick-Needles type is associated with deviations in the development of the human skeleton. Other health problems are also among the symptoms of the disease. Melnick-Needles type osteodysplasty belongs to a special category of diseases called otopalatodigital spectrum disorders.
In principle, these diseases are characterized by the fact that they lead to a loss of hearing as a result of deformed bones. This results from a deformation of the tiny bones inside the ear. In addition, there are disorders in the development of the palate and the bones in the fingers and toes of those affected.
Causes
Osteodysplasty of the Melnick-Needles type is primarily characterized by genetic causes. A special 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 controlling a specific protein. For example, it plays an important role in the construction of the skeleton, structuring cells and causing them to move and change shape.
Symptoms, Ailments & Signs
Osteodysplasty of the Melnick-Needles type is characterized by numerous symptoms. In principle, the Melnick-Needles type of osteodysplasty is usually the most severe disorder from the otopalatodigital spectrum. Affected individuals are typically short in stature and have unusually long fingers and toes.
In some cases, the extremities have bends. Sometimes the ribs are underdeveloped or irregular, sometimes resulting in breathing problems. In some patients, certain bones are completely absent. The typical changes in osteodysplasty of the Melnick-Needles type are particularly noticeable on the face.
The forehead of the affected person is often very prominent and covered with hair. In the context of osteodysplasty of the Melnick-Needles type, the supraorbital bulge is relatively pronounced. In addition, there may be misalignment of the teeth, exophthalmos or microgenia.
The gait of the patient with osteodysplasty of the Melnick-Needles type often deviates from normal. Patients may suffer from foot deformities. Many affected people also complain about frequent infections of the respiratory tract.
In some cases, people with Melnick-Needles osteodysplasty have protruding eyes. The cheeks are often very rounded, while the lower jaw is small, implying a receding chin. In addition, it is possible that in the case of osteodysplasty of the Melnick-Needles type, clear asymmetries can be seen in the facial area.
Hearing loss or heart defects are also possible. As a rule, the symptoms of osteodysplasty of the Melnick-Needles type are much more pronounced in males than in females. Many male victims die before or shortly after birth.
Diagnosis & course of disease
The diagnosis of osteodysplasty of the Melnick-Needles type is carried out with the help of various methods and techniques of examination. If there are characteristic signs of osteodysplasty of the Melnick-Needles type, which often appear visually, a doctor should be consulted. The presenting symptoms are discussed together with the patient or his/her parents.
This is followed by numerous examinations so that the osteodysplasty type Melnick-Needles can be diagnosed with certainty. For example, an X-ray examination is used. This shows, for example, an enlarged pit in the back of the skull.
Slow closure of the fontanelles, sclerosis at the base of the cranial bone, frontal hyperostosis and the absence of the frontal sinuses are typical identifying features of a patient. Skeletal evidence of dysplasia is evident, with long bones bent or the ribs appearing in the form of a band.
The pelvic bone may also be affected by the dysplasia and the affected person may have a coxa valga. In the context of osteodysplasty of the Melnick-Needles type, scoliosis is also typical. In cases of doubt, a genetic analysis provides certainty about the presence of osteodysplasty of the Melnick-Needles type.
Complications
Osteodysplasty of the Melnick-Needles type is a very serious hereditary disease that severely limits the life expectancy of those affected. Due to the fact that the X chromosome is affected by a mutation, the disease is much more pronounced in male fetuses. Male embryos usually die in the womb from various complications.
These are a number of many possible embryopathies such as heart defects, intestinal malrotation or umbilical cord breaks. Malrotation is a disorder in the rotation of the large and small intestine during embryonic development. A life-threatening intestinal obstruction can occur as a complication. While male fetuses usually do not survive the mother’s pregnancy, the symptoms in female fetuses are milder because the female organism has two X chromosomes.
But the affected children still suffer from severe skeletal abnormalities and can also die from various complications. Complications include particularly severe infections and failure to thrive. The failure to thrive is caused by disrupted nutrient uptake. The prognosis of this malabsorption depends on its severity.
However, the most dangerous complications of a Melnick-Needles osteodysplasty are the frequent infections due to a weakened immune system. This often leads to severe infections of the respiratory tract and ears. 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 with osteodysplasty of the Melnick-Needles type, since this disease does not heal itself and in most cases the general condition of the patient deteriorates. Early diagnosis by a doctor can significantly improve the chances of a cure. A doctor should be consulted if severe bending of the extremities occurs as a result of osteodysplasty of the Melnick-Needles type.
Difficulty breathing can also indicate this disease and lead to severe impairments in the everyday life of the person concerned. Many patients also suffer from misaligned teeth and thus from toothache or pain in the mouth. Likewise, if you have limited hearing, you should see a doctor. Since osteodysplasty of the Melnick-Needles type can also lead to heart problems, it is advisable to take part in regular examinations by a cardiologist.
However, the further treatment of this disease depends very much on the severity of the respective symptoms and is carried out by the respective specialist. Unfortunately, it cannot be predicted whether a complete healing will occur.
Treatment & Therapy
In principle, the treatment of osteodysplasty of the Melnick-Needles type is symptomatic. In some cases it is possible to correct the scoliosis with surgery. The same applies to a possible misalignment of the jaw.
Outlook & Forecast
Melnick-Needles osteodysplasty is a genetic disease that mainly affects the skeleton. Deformations of the bones and the skull occur here. However, the very rare Melnick-Needles syndrome (MNS) can also be seen on the face of those affected. So far, 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 intrauterine. The cause of the rare malformation is a genetic defect. So far, the pathophysiology of the Melnick-Needles type osteodysplasty has not been clarified. The only thing doctors know is that sex determines whether the fetus survives or not. Due to the varying complexity of the symptoms, the treatment of osteodysplasty of the Melnick-Needles type is time-consuming and difficult.
A general prognosis is difficult to make because the severity of the disease can 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 treated well medically. However, the actual symptoms of osteodysplasty of the Melnick-Needles type can only be treated with interdisciplinary measures.
Therapy must be tailored to individual needs. The cooperation of orthopaedists, ENT doctors, pediatric specialists and geneticists is usually useful. The life expectancy of those affected with osteodysplasty of the Melnick-Needles type is severely limited. Complications are to be expected.
Prevention
Osteodysplasty of the Melnick-Needles type cannot be effectively prevented since the disease is mainly caused by a genetic mutation.
Aftercare
Since the treatment of the Melnick-Needles type of osteodysplasty is adapted to the symptoms that occur, there is no uniform follow-up care for the disease. For example, if a patient has had surgery to correct scoliosis, follow-up care provides for the patient to receive appropriate post-operative follow-up care. A rehabilitation stay and physiotherapy help to strengthen the muscles. Taking antibiotics is intended to prevent infection of the surgical wound.
On the other hand, if the condition is more likely to lead to heart problems, then regular check-ups by a cardiologist are required. In such cases, the patients are also given appropriate medication in order to be able to better regulate symptoms such as cardiac arrhythmias. Psychological care is often required as follow-up care when patients develop psychological illnesses such as depression due to chronic pain or a steady deterioration in hearing.
In many cases it is also necessary that not only the patients but also their relatives are cared for by a family therapist. In such therapy sessions, parents, siblings and other family members learn how they can support the child in its development in order to enable it to live a nearly normal life despite its deformity.
You can do that yourself
Since osteodysplasty of the Melnick-Needles type is a genetic disease, the possibilities for self-help are very limited. Therapy, both medical and alternative, can only be symptomatic. The focus is on maintaining the quality of life of the child.
Physical closeness and attention from parents and relatives can bring relaxation to the sick child. Mental support through the presentation of different visual or tactile stimuli also distracts from the consequences of the disease and helps to advance the development of the child. When dealing with the child, it is important to consider the respective individual state of illness.
Another focus should be on the psychological care of the parents and other relatives of the child concerned. Hospitals and counseling centers can provide information about the different options for psychosocial support for the family. Such support can help deal with the effects of the child’s illness. You can also learn different alternative relaxation methods that can be used at home. Through yoga and meditation you can learn to deal with stress and anxiety. This reduces the risk of depression and relieves caregiving relatives.