Diseases

Conradi-Hünermann Syndrome – Causes, Symptoms & Treatment

Conradi-Hunermann syndrome

In human medicine, the term Conradi-Hünermann syndrome is used when a female patient is diagnosed with an extremely rare lack of growth due to genetic causes. This manifests itself, among other things, in sparse hair growth, shortened limbs, excessively large skin pores and other morphological defects. The syndrome cannot be cured, only treated symptomatically.

What is Conradi-Hünermann Syndrome?

Conradi-Hünermann syndrome is a genetically caused growth abnormality that occurs exclusively in girls. Those affected suffer from massive morphological deviations. These are externally visible through shortened limbs, extremely large skin pores and little hair.

A deformed face and other body defects are also possible. The disease was named after its discoverers, German pediatricians Erich Conrad, Carl Hünermann and Rudolf Happle. The literature also includes the terms 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 chondrodysplasia, it belongs to the group of chondrodysplasia punctata. Typical for representatives of this group is a calcification of the larynx, trachea or joints.

A diagnosis of the complex diseases of this group is already possible today in the womb. In the medical literature, the frequency of the Conradi-Hünermann syndrome is estimated at about one in 100,000 births. The disease is therefore extremely rare.

causes

The Conradi-Hünermann syndrome is exclusively due to genetic causes. The distinction from other diseases of the Chondrodysplasia punctata group is based on the genetic defect that causes the symptoms that occur in each case, and the relevant inheritance. In contrast to other diseases, the Conradi-Hünermann syndrome is inherited through a dominant X chromosome.

This has a faulty EBP gene and thus causes the typical morphological deviations. Also known as sterol delta8/7 isomerase, the EBP gene is an enzyme found in cholesterol metabolism. 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. Those affected often only show some of the conceivable symptoms in their entirety.

For example, significant morphological abnormalities of the face are common. In many of those affected, this is very flat and characterized by a particularly flattened bridge of the nose. In addition, changes in the eyes are also among the typical symptoms of Conradi-Hünermann syndrome.

The most common complaints include a clouding of the lens of the eye ( cataract ), a loss or a severe reduction in the nerve fibers of the eye (glaucoma or glaucoma ) and degenerative damage to the optic nerve, which becomes noticeable through a reduction in nerve cells ( optic atrophy ) . .

In addition, the extremities can also become severely shortened, which is why the syndrome is often referred to as a growth disorder. The arms and legs are particularly affected. They are partly asymmetrical. Differences in length are also not unusual.

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 lateral deviation of the same is called scoliosis.

In addition, skin changes are common. Those affected have large pores. Ichthyosis (ichthyosis) , pigmentary disorder , erythdroderma , and atrophoderma are also common.

Diagnosis & History

In modern human medicine, the first diagnosis is already in the womb and is therefore possible very early. An x-ray can be used to prove it. This usually shows some anomalies. Calcifications in the ends of the joints, the so-called epiphysis ossis, can be visible, especially in the early years of life.

The calcifications are stippled on the X-ray image . A reduced height of the vertebral body and shortening of the limbs are also typical . Especially in older patients, a mere visual examination can already 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.

complications

Various symptoms and complications can occur with corpus callosum agenesis. In most cases, however, there are disturbances in behavior and limitations in hearing and vision. As a rule, the restrictions do not appear suddenly, but 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 intracranial pressure leads to headaches and malformations in the brain. Due to these undesirable developments, behavioral disorders and other psychological complaints occur. 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, which usually results in reduced intelligence. Causal treatment is not possible because it is not possible to replicate the cerebral beam.

For this reason, behavioral therapies and learning therapies are primarily used so that the patient’s intelligence is not reduced by corpus callosum agenesis. Speech therapy must also be carried out in many cases. If epileptic seizures occur, the intracranial pressure must be reduced. In rare cases, corpus callosum agenesis does not cause any symptoms or complications.

When should you go to the doctor?

If the morphological abnormalities of the face or other typical symptoms of the Conradi-Hühnerman syndrome are noticed, a doctor must be consulted in any case. If there are noticeable symptoms such as the characteristic cataracts or growth disorders, there is a high probability that it is a genetic disease – then you should speak to the pediatrician immediately. Conradi-Hühnerman syndrome is an inherited condition that occurs mainly in female patients.

Parents who notice the symptoms mentioned 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 you have a mere suspicion or characteristic signs of the disease, go to your family doctor or pediatrician. Other contacts are the specialist for hereditary diseases and specialists for the respective symptoms. For example, an ophthalmologist should be consulted in the event of visual disturbances, while growth disorders require orthopedic help. In the event of a medical emergency, the medical emergency service should be contacted.

Treatment & Therapy

Since the Conradi-Hünermann syndrome is a genetic disease that already leads to morphological changes in the embryo stage, a cure is not possible. All therapeutic approaches therefore have a symptomatic focus. The aim is therefore to alleviate the symptoms of the disease.

For example, changes in the skin can be alleviated by ointments. Leg length differences require orthopedic treatment. Changes or malpositions of the spine can also be treated by wearing a corset.

Medications are prescribed to treat any pain that may arise. Physiotherapy or physical therapy concepts can form a helpful supplementary element of a comprehensive and coordinated therapy concept.

Outlook & Forecast

As a rule, the Conradi-Hünermann syndrome cannot be treated causally and causally. For this reason, only symptomatic treatment of the syndrome is possible, so complete healing does not occur.

If the Conradi-Hünermann syndrome is not treated, those affected will suffer from various facial deformities that can have a negative impact on the patient’s aesthetics. A growth disorder also occurs, whereby the 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 child’s development and slows it down. The patient’s vision is also reduced by the syndrome, with the worst case scenario leading to complete vision loss .

The treatment of the Conradi-Hünermann syndrome can primarily compensate for the changes in the skin and spine. A corset can alleviate the misalignment of the spine. Physiotherapy or physiotherapy can also relieve pain. It is not possible to prevent Conradi-Hünermann syndrome. However, the life expectancy of the patient is usually not negatively affected by the disease.

prevention

The Conradi-Hünermann syndrome is caused by a faulty chromosome. The disease is therefore exclusively genetic, so that prevention is completely impossible.

aftercare

Since the genetically determined Conradi-Hünermann syndrome or Happle syndrome is associated with growth disorders , several visits to the doctor at a young age are the norm. Due to the genetic cause of the Conradi-Hünermann syndrome, medical treatment can only be symptomatic. In addition to necessary medical measures resulting from the clinical picture, aftercare measures are also helpful.

One of the most important aftercare measures are offers of psychological support. 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 those 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 follow-up measure. 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 Conradi-Hünermann syndrome as regular exercise. Within the scope of their physical possibilities, those affected can practice disabled sports. This also ensures that a supportive social environment is created in which those affected feel accepted.

On the medical follow-up side, not too much 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 associated with strong, noticeable visual changes, those affected should pay attention to strengthening their self-confidence . In everyday life, despite all the symptoms, 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 those affected and those in their social environment, there should be good information about the disease and its course. This facilitates interpersonal interaction. It is helpful to have a relaxed atmosphere in which the illness can be discussed openly and open questions answered. Prejudices and inhibitions can be broken down.

For mental strengthening, relaxation methods 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 head. Self-help groups are often found to be helpful. This is where sick people exchange ideas, give each other support and important information.

Despite the serious symptoms, leisure and sporting activities help to maintain and build well-being. In consideration of 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.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.