In human medicine, the term Conradi-Hünermann syndrome is used when a female patient is diagnosed with an extremely rare growth deficiency that can be traced back to genetic causes. This manifests itself, among other things, in a small amount of hair, shortened limbs, skin pores that are too large and other morphological defects. The syndrome cannot be cured, it can only be treated symptomatically.
What is Conradi-Hünermann Syndrome?
Conradi-Hünermann syndrome is a genetically caused growth abnormality that occurs only in girls. Affected suffer from massive morphological deviations. These are externally visible through shortened limbs, extremely large skin pores and a small amount of hair.
A deformed face and other defects in the body are also possible. The disease was named after its discoverers, the German paediatricians Erich Conrad, Carl Hünermann and Rudolf Happle. The literature also contains the names Happle syndrome, Conradi-Hünermann-Happle syndrome and the Latin names Chondrodystrophia congenita calcificans and Chondrodysplasia foaetalis calcarea.
According to the ICD-10 classification, the term chondrodysplasia punctata syndrome can also be used. Since the disease affects the chondrodysplasias, it belongs to the group of chondrodysplasia punctata. Calcification of the larynx, windpipe or joints is typical for representatives of this group.
A diagnosis of the complex diseases of this group is already possible in the womb. In the medical literature, the frequency of Conradi-Hünermann syndrome is estimated at around one in 100,000 births. The disease is extremely rare.
The Conradi-Hünermann syndrome can only be traced back to genetic causes. The differentiation from other diseases of the Chondrodysplasia punctata group is based on the genetic defect that causes the symptoms and the relevant inheritance. In contrast to other diseases, Conradi-Hünermann syndrome is inherited through a dominant X chromosome.
This has a defective EBP gene and thus causes the typical morphological deviations. The EBP gene is also known as sterol delta8 / 7 isomerase and is an enzyme that can be found in the metabolism of cholesterol. Among other things, it is responsible for the rearrangement of double bonds and mutates in the affected girls in the chromosome region Xp 11.23 – p 11.22.
Symptoms, ailments & signs
The different manifestations of the Conradi-Hünermann syndrome are different, so that not all of the symptoms listed below have to be present. Often those affected only show some of the symptoms that are conceivable in their entirety.
For example, considerable morphological abnormalities of the face are common in some cases. For a large number of those affected, this is very flat and characterized by a particularly flattened bridge of the nose. In addition, changes in the eyes are typical symptoms of Conradi-Hünermann syndrome.
The most common complaints include clouding of the lens of the eye (cataracts or cataracts), a loss or severe reduction in the nerve fibers of the eye (glaucoma or glaucoma) and degenerative damage to the optic nerve, which is noticeable in a decline in nerve cells (optic atrophy).
In addition, the extremities can be shortened considerably, which is why the syndrome is often referred to as a growth disorder. The arms and legs are particularly affected. Some of them are asymmetrical. Differences in length are also nothing special.
In addition, limitations in the functionality and mobility of the joints are a common symptom (joint contracture). Kyphosis or scoliosis are also often reported. Kyphosis is a backward (dorsal) curvature of the spine. A sideways deviation of the same is called scoliosis.
In addition, skin changes are common. Those affected have large pores. Ichthyosis (ichthyosis), pigment disorder, erythdroderma, and atrophoderma are also common.
Diagnosis & course
In modern human medicine, the first diagnosis can be made in the womb and therefore very early. Evidence can be provided by an X-ray. This usually has some anomalies. Calcifications in the joint ends, the so-called epiphysis ossis, can be visible, especially in the early years of life.
The calcifications are visible on the x-ray. A vertebral body that is reduced in height and shortened limbs are also typical. In the case of older patients in particular, a mere visual examination can lead to an initial finding.
Since the Conradi-Hünermann syndrome must be differentiated from the other representatives of the chondrodysplasia punctata group, a comprehensive differential diagnosis will always be necessary. Other conceivable causes of the symptoms that are not related to the syndrome must also be ruled out.
Various complaints and complications can occur with corpus callosum agenesis. In most cases, however, there are behavioral disorders and impairment of hearing and vision. As a rule, the restrictions do not appear suddenly, but instead lead to a constant reduction in these perceptions over the course of the disease.
Complete blindness or complete hearing loss can also occur. In many cases, the increased brain pressure leads to headaches and undesirable developments in the brain. Because of these undesirable developments, behavioral disorders and other psychological complaints occur. The corpus callosum agenesis often occurs with short stature.
The patients suffer from metabolic diseases and have a reduced quality of life. Concentration is also reduced, so that there is usually a reduced intelligence. The causal treatment is not possible as it is not possible to recreate the cerebral bar.
For this reason, behavioral therapies and learning therapies are mainly used so that the patient’s intelligence is not reduced by the corpus callosum agenesis. Speech therapy also has to be carried out in many cases. If epileptic seizures occur, the brain pressure must be reduced. In rare cases, the corpus callosum agenesis does not lead to any complaints or complications.
When should you go to the doctor?
If the morphological abnormalities of the face or other typical symptoms of Conradi-Hühnerman syndrome are noticed, a doctor must be consulted in any case. In the case of conspicuous symptoms such as the characteristic cataract or growth disorders, the probability is high that it is the genetic disease – then you should speak to the pediatrician immediately. Conradi-Hühnerman syndrome is an inherited disease that occurs mainly in female patients.
Parents who notice these symptoms in their child or who have a specific suspicion of an illness based on a family history should consult a doctor immediately. In general, unusual symptoms and external abnormalities should be clarified quickly so that they can be treated at an early stage.
Therefore: if there is a mere suspicion or characteristic signs of the disease, go to the general practitioner or pediatrician. Further contact persons are the specialist for hereditary diseases and specialists for the respective symptoms. An ophthalmologist should be consulted in the case of visual disturbances, while growth disorders require orthopedic help. In the event of a medical emergency, the emergency medical service should be contacted.
Treatment & Therapy
Since the Conradi-Hünermann syndrome is a genetic disease that leads to morphological changes in the embryonic stage, a cure is not possible. All therapeutic approaches therefore have a symptomatic focus. So the aim is to alleviate the symptoms of the disease.
For example, changes in the skin can be alleviated with ointments. Differences in leg lengths require orthopedic treatment. Changes or misalignments of the spine can also be treated by wearing a corset.
Medication is prescribed to treat pain that may occur. Physiotherapy or physiotherapy concepts can form a helpful supplementary element of a comprehensive and self-coordinated therapy concept.
Outlook & forecast
As a rule, the Conradi-Hünermann syndrome cannot be treated causally or causally. For this reason, only symptomatic treatment of the syndrome is possible, so that there is no complete cure.
If the Conradi-Hünermann syndrome is not treated, those affected suffer from various malformations of the face, which can have a negative effect on the patient’s aesthetics. A growth disorder also occurs, whereby arms and legs are primarily affected by this disorder. The difference in length can also lead to restrictions in movement and thus in everyday life.
In general, the Conradi-Hünermann syndrome has a very negative effect on the development of the child and slows it down. The patient’s eyesight is also reduced as a result of the syndrome, with complete loss of vision in the worst case.
Treatment of Conradi-Hünermann syndrome can primarily compensate for changes in the skin and spine. A corset can alleviate the misalignment of the spine. Physiotherapy or physiotherapy can also relieve pain. Prevention of Conradi-Hünermann syndrome is not possible. However, the life expectancy of the patient is usually not negatively affected by the disease.
The Conradi-Hünermann syndrome is caused by a faulty chromosome. The disease is therefore exclusively genetic, so that prevention is completely impossible.
Since the genetic Conradi-Hünermann syndrome or Happle syndrome is associated with growth disorders, several visits to the doctor are the rule at a young age. Medical treatment can only be symptomatic due to the genetic cause of the Conradi-Hünermann syndrome. In addition to necessary medical measures resulting from the clinical picture, follow-up measures are also helpful.
One of the important follow-up measures is support of a psychological nature. The immediate environment should be informed about the nature of the disease in order to avoid bullying and ridicule because of the special appearance of the person affected.
The use of meditation, relaxation methods or yoga can also help those affected to better deal with the consequences of the disease. Participation in a self-help group can be an important measure in the context of aftercare. Both the sick themselves and their immediate relatives can get help, advice and support here.
Meaningful and fulfilling leisure activities are just as much a part of the Conradi-Hünermann syndrome as regular exercise. As far as their physical capabilities allow, those affected can do sports for the disabled. This also ensures that a supportive social environment is created in which those affected feel accepted.
On the medical aftercare side, there is not much that can be done with Conradi-Hünermann syndrome. However, physiotherapy and other physiotherapeutic measures that maintain mobility are possible. Such measures also serve to relieve pain.
You can do that yourself
Since the symptoms of the hereditary disease are linked to strong, noticeable visual changes, the person affected should ensure that their self-confidence is strengthened. In everyday life, despite all the complaints, good psychological stability is important for maintaining a good quality of life.
So that dealing with the disease is not associated with surprises or unpleasant situations for the person concerned and the people in the social environment, there should be a good education about the disease and its course. This makes it easier to interact with people. It is helpful to have a relaxed atmosphere in which the illness can generally be discussed openly and open questions clarified. Prejudices and inhibitions can be reduced in this way.
For mental strengthening, relaxation procedures can be used, which can be carried out independently at any time. Meditation, yoga or progressive muscle relaxation help to reduce stress and clear your mind. Self-help groups are also often perceived as helpful. Here, sick people exchange ideas, give each other support and provide important information.
Despite the serious complaints, leisure and sporting activities help to maintain and build well-being. Taking into account physical possibilities, participation in social life is important for mental health. In contact with other people, fears can be reduced and the joy of life can be lived.