The CEDNIK syndrome is a congenital disease which, in addition to abnormalities in the skin, also manifests itself in disorders of the nervous system. Patients with CEDNIK syndrome mainly suffer from keratoderma and hyperkeratosis. The keratinization processes of the skin are impaired. In the nervous system, CEDNIK syndrome in particular shows developmental disorders.

What is CEDNIK Syndrome?

Basically, the term CEDNIK syndrome is an acronym that summarizes the main symptoms of the disease. These include ichthyosis, cerebral dysgenesis, palmo-plantar keratoderm, and neuropathy. The medical spokesman was the first to describe the CEDNIK syndrome in accordance with scientific guidelines in 2005.

People with CEDNIK syndrome suffer from pronounced disorders of the developmental processes of the nervous system. In addition, the epidermis does not differentiate as it does in healthy people, so that the CEDNIK syndrome also causes discomfort on the skin. This combination of typical symptoms makes the CEDNIK syndrome a neurocutaneous syndrome.

Currently, only about seven people are known in medical science who suffer from CEDNIK syndrome. There are four female and three male patients. What is striking about the sick people is that they are children from consanguineous families. Thus there is a blood relationship between the parents.

In CEDNIK syndrome there is an autosomal recessive inheritance pattern. The causes of CEDNIK syndrome can be found in genetic mutations on the SNAP29 gene. Doctors estimate the prevalence of CEDNIK syndrome to be less than 1: 1,000,000 based on the number of cases of illness that have occurred to date.

Causes

The pathogenesis of CEDNIK syndrome is closely related to certain genetic mutations. All patients with the CEDNIK syndrome examined so far have typical gene mutations on the SNAP29 gene.

This gene is located on the gene locus 22q11.2 and is responsible for coding the so-called SNAPE protein. It thus participates in the connection of various vesicles. Gene mutations on this gene lead, for example, to the cornification disorders that are typical of CEDNIK syndrome.

Symptoms, ailments & signs

The CEDNIK syndrome manifests itself in characteristic symptoms that provide medical experts with quick clues about the disease. Most of the symptoms are present at birth and can be identified by doctors and parents. These include, for example, the malformations in the face that are typical in CEDNIK syndrome. The affected children have an unusually wide nose, hypertelorism and an antimongoloid lid.

In addition, babies and toddlers with CEDNIK syndrome are unable to control their head and trunk normally. In addition, children affected by CEDNIK syndrome often look restlessly back and forth. All symptoms and signs of the CEDNIK syndrome show up either in newborn babies or in patients who are very young.

Diagnosis & course

The diagnosis of CEDNIK syndrome is sometimes difficult, as only a few cases of the disease are known and numerous medical professionals hardly consider the disease in examinations due to its rarity. In principle, however, the external appearance of newborn children with CEDNIK syndrome indicates a congenital disease immediately after delivery, so that further clinical examinations usually follow quickly.

The rule here is that the child’s parents play a key role in the anamnesis and, for example, provide the doctor with information about comparable cases of illness in the family. Since the previous cases of CEDNIK syndrome involve children from consanguineous connections, a comprehensive family history is particularly relevant.

When talking to the patient, the custodians describe the baby’s or toddler’s symptoms and any abnormalities during the pregnancy. The subsequent clinical examination uses numerous techniques. For example, the specialist carries out visual examinations at the beginning, focusing above all on the skin and in particular on the typical disorders of the cornification processes.

The abnormalities on the face also provide important information about the CEDNIK syndrome. A specialist in neurology is usually involved in examining the neurological symptoms. Finally, a reliable diagnosis of CEDNIK syndrome is usually made with the help of genetic tests.

Molecular genetic examinations of the patient are used to detect the triggering gene mutations. However, the previous family history and clinical examinations are important in order to narrow down the gene region to be analyzed more precisely.

Complications

CEDNIK syndrome causes various abnormalities in the patient. The development of children is also considerably disturbed by the syndrome and, as a rule, also severely delayed. Malformations occur in the eyes and nose. As a result of these malformations, children in particular can become victims of teasing and bullying in school and kindergarten, which can often lead to psychological complaints and other complications.

In most cases, the behavior of the affected children is relatively restless and concentration is greatly reduced. This sometimes leads to symptoms in adulthood. As a rule, the parents of the children also suffer from severe psychological complaints or from depression due to the CEDNIK syndrome. In most cases, the diagnosis of the syndrome is made directly in the mother’s womb, so that treatment can also be carried out after the birth.

This is primarily done by surgically removing the deformities. The changed behavior can also be improved through various therapies and discussions with a psychologist. As a rule, life expectancy is not affected by the CEDNIK syndrome and is therefore not restricted.

When should you go to the doctor?

In most cases, the CEDNIK syndrome leads to various restrictions and disorders in the patient’s development. For this reason, a doctor usually has to be consulted whenever the CEDNIK syndrome leads to developmental disorders. The sooner the disease is diagnosed and treated, the better the chances of a complete cure for the syndrome. As a rule, cornification disorders of the skin can also occur with CEDNIK syndrome. A doctor should also be consulted.

In most cases, however, due to the malformations, the disease is diagnosed immediately after birth or in the first few months of life. This is done by the pediatrician or the general practitioner. If the symptoms of development only appear in old age, a doctor should definitely be consulted. As a rule, the symptoms of CEDNIK syndrome can be treated by different specialists. Early treatment has a very positive effect on the further course of this disease.

Treatment & Therapy

There is currently no cure for CEDNIK syndrome. Children with CEDNIK syndrome suffer from the disease from birth, although causal therapy is fundamentally excluded. That is why doctors treat CEDNIK syndrome primarily with a view to the individual symptoms.

With regard to the deformities of the face, surgical interventions that carry out a cosmetic correction of the anomalies can be considered. With regard to the neurological symptoms of the CEDNIK syndrome, patients sometimes receive drug therapy. If necessary, the children attend a special school and special care facilities.

If the occurrence of the genetic mutations of the CEDNIK syndrome in families is known, genetic counseling is urgently recommended. In the case of CEDNIK syndrome, this makes sense, especially in family planning.

Outlook & forecast

No causal therapy is possible in CEDNIK syndrome. Those affected are dependent on purely symptomatic treatment, which, however, cannot completely resolve the symptoms.

Some anomalies and malformations can be resolved by surgical interventions. Above all, this increases the aesthetics of the person affected. Affected children with CEDNIK syndrome are dependent on intensive therapy and usually on attending a special school in their lives so that complications do not arise in later life. However, the syndrome itself does not lead to a reduced life expectancy. The child’s parents should include the syndrome in further family planning and undergo genetic counseling to prevent it from occurring again.

If the malformations are not corrected in the patient, they lead to significant restrictions in the everyday life of the person concerned. This often leads to psychological complaints or depression. In most cases, the paralysis can no longer be alleviated, so that the children affected are always dependent on outside help in their everyday lives. The keratinization disorders of the skin can only be combated symptomatically, so that those affected are dependent on lifelong therapy.

Prevention

The CEDNIK syndrome is congenital and prenatal prevention is not possible. However, the previous cases of CEDNIK syndrome indicate relatively clearly that children from consanguineous connections are exposed to a particular risk. Such circumstances should be taken into account when planning a family in order to reduce the risk of developing CEDNIK syndrome.

You can do that yourself

In the case of the congenital disease, there are no possibilities for self-help that lead to an alleviation or cure of the disease. Depending on the extent of the malformations in the face, changes can be achieved in cooperation with a surgeon. Nevertheless, a visual flaw remains that cannot be adapted to the standard.

An infant cannot develop feelings such as shame in everyday life or assess the importance of the existing visual changes. For these reasons, the needs of parents or close relatives are more of a focus in this disease. If desired, the child’s face can be easily covered with accessories. However, further measures, such as the use of cosmetic products, are not advisable.

Dealing openly with the disease and its symptoms is helpful in creating an acceptable situation for both the child and the parents. For this, the people in the immediate social environment should be fully informed about the CEDNIK syndrome. This helps to reduce uncomfortable situations in everyday life.

In addition, parents can take advantage of therapeutic help or discuss their feelings in self-help groups. The use of relaxation techniques is also recommended. These support you with the daily challenges and reduce the stress that arises.

CEDNIK Syndrome

CEDNIK Syndrome Guide