EEC Syndrome – Causes, Symptoms & Treatment
EEC Syndrome
EEC syndrome is a rare disease that is present at birth. The abbreviation stands for the terms ectrodactyly, ectodermal dysplasia and C left (English term for cleft lip and palate) . The term disease thus summarizes the three most important symptoms of the EEC syndrome. The patients suffer from a split hand or a split foot as well as defects of ectodermal dysplasia.
What is EEC Syndrome?
The EEC syndrome represents a disorder in the development of the people affected, which is already fixed at birth. The EEC syndrome develops as a result of genetic mutations in the patients. The three typical symptoms of the EEC syndrome are ectodermal dysplasia , ectrodactyly and an orofacial cleft .
Basically, the EEC syndrome is extremely rare. Although the exact frequency of the disease is not known, there are currently just over 300 cases of the disease in the medical literature. In 1970, several doctors distinguished the EEC syndrome as an independent disease from other diseases with similar symptoms.
These are the doctors Passarge, Rüdiger and Haase. The EEC syndrome is characterized by an autosomal dominant mode of inheritance. According to assumptions, the disease was first described as early as 1804 by the doctors Martens and Eckoldt.
causes
In principle, the EEC syndrome is caused by gene mutations on certain gene sequences. In the majority of cases, the EEC syndrome develops through so-called missense mutations. These occur on a gene called TP63 at gene locus 3q27. This gene is responsible for encoding a transcription factor that plays an important role in the formation of extremities and ectoderm.
Mutations in this gene are associated with the typical EEC syndrome. The phenotype and the genotype usually correlate . With other mutations, the patients suffer from malformations of the inner ear and the auricles . EEC syndrome is inherited in an autosomal dominant manner. The penetrance of the EEC syndrome is between 93 and 98 percent and is therefore not complete. The expressivity of the disease is also variable.
Symptoms, Ailments & Signs
The EEC syndrome differs greatly in its symptoms in individual cases. The various genetic mutations are primarily responsible for these variations. Typical signs of the EEC syndrome consist of syndactyly , a cleft foot or a cleft hand and a cleft lip and palate on both sides. In some cases, however, there is only a cleft lip.
The lacrimal ducts of patients with the EEC syndrome are usually affected by atresia, in addition, the persons are photophobic and suffer from conjunctivitis, chronic blepharitis and dacryocystitis . The iris of the patient is usually blue in color. The attachments for the teeth are often not available or too small.
The incisors are below average in appearance and are reminiscent of pins in shape. The hair on the head grows only sparsely, and the growth of eyelashes and eyebrows is also weak. Patients often have light-colored, blond hair that curls slightly. The auricles are usually deformed, and the people also suffer from an impairment of their sense of hearing .
Choanal atresia, hypohidrosis, and hyperkeratosis are also present. The nails on fingers and toes are often deformed in EEC syndrome. The kidneys and urinary tract may also be affected by malformations. The patients usually have dry skin that forms only a few pigments and is therefore very light.
Basically, the typical signs of the EEC syndrome vary in individual cases with regard to their degree of severity. Even the main symptoms do not occur in all patients. However, most people affected by EEC syndrome have average intelligence, while physical development is often delayed.
Diagnose
Various medical specialists are involved in the diagnosis of EEC syndrome. In the patient consultation, the doctor tries to fathom the symptoms and medical history as precisely as possible. Visual and X-ray examinations play an important role in the clinical examination.
Depending on the location of the symptoms, the doctor depicts the jaw or extremities, for example. He also examines the kidneys using ultrasound technology . The doctor takes swabs from the skin and orders a laboratory histological analysis of the samples.
A reliable diagnosis of the EEC syndrome is usually only possible with the help of a genetic test . The doctor identifies the typical genetic mutations that trigger the EEC syndrome. In some embryos, the EEC syndrome can already be detected during pregnancy.
Corresponding prenatal examinations are particularly useful in families in which corresponding mutations have already occurred. In the differential diagnosis, the attending physician distinguishes EEC syndrome from Hay-Wells syndrome and ectodermal dysplasia.
complications
The complications of EEC syndrome and its severity vary widely in most people. However, most patients suffer from a split foot and a split hand. The lip can also be affected by a cleft. Due to the EEC syndrome, many patients develop inferiority complexes and reduced self-esteem due to the changed appearance.
The quality of life is significantly reduced by the syndrome. In many cases, the teeth are also affected by malformations. Hair growth is also limited, so that there is almost no hair growth on the head or eyebrows. Children often suffer from EEC syndrome because they are teased because of the changed appearance.
Hearing loss and dry skin are most common in patients. Intelligence is usually unaffected by EEC syndrome and can develop normally. Unfortunately, there is no treatment available for EEC syndrome. However, surgical procedures can be performed to correct the deformities cosmetically.
Physiotherapy is often used to improve the patient’s range of motion. There are no further complications with the treatment methods. However, the patient has to live his entire life with the symptoms of the EEC syndrome.
When should you go to the doctor?
Since the EEC syndrome has usually been present since birth, it is not necessary to visit a doctor for diagnosis. However, since those affected suffer from various malformations and deformities, a doctor should always be consulted if this leads to restrictions and problems in everyday life. The teeth and ears can also be affected by this syndrome and should be corrected if necessary. An ENT doctor should be consulted if the patient suddenly suffers from hearing loss.
Since the mental and physical development of the child is also significantly slowed down by the EEC syndrome, a medical examination and further support are necessary. This can prevent problems in adulthood. A psychologist must also be consulted if the child or parents have psychological problems . Furthermore, the EEC syndrome can also lead to malformations in the kidneys or urinary tract, so these areas of the body should also be examined regularly. If the treatment is successful, the patient’s life expectancy is usually not reduced.
Treatment & Therapy
A causal therapy of the EEC syndrome is not possible. However, the patients usually receive symptomatic treatment tailored to the symptoms by means of surgical cosmetic corrections and orthodontic therapy . Physical therapy is also helpful for most patients. In principle, the prognosis of the EEC syndrome is favorable, so that the sufferers usually reach a normal age.
Outlook & Forecast
The prognosis for EEC syndrome is usually very favorable. Normally life expectancy is not reduced. In rare cases, however, complications can occur, which can sometimes be fatal. So far, only very few cases of this autosomal dominant mutation have been described. However, since the clinical picture is very variable, a larger number of unreported cases is assumed.
Although the disease is characterized by the three cardinal signs of cleft hands and feet, cleft lip, and abnormalities of various ectodermal structures, all of the symptoms vary in severity between individuals and do not necessarily occur at the same time. This variability also determines the individual prognosis of the disease.
If hypohidrosis, i.e. the reduced ability to sweat, is one of the dominant signs of the disease, there is always a risk of life-threatening complications. Due to the reduced perspiration, body heat cannot be dissipated effectively when clothing is too thick, the outside temperature is high or physical exertion is taking place, which can lead to fatalities from heat build-up. Therefore, the correct treatment of hypohidrosis is one of the most important elements of therapy for EEC syndrome.
Some sufferers also suffer from hearing loss. Furthermore, constant ophthalmological treatment is required to prevent cataracts or corneal scars. Although life expectancy is almost normal, there is often a limitation in quality of life due to the many visible anomalies. In individual cases, this can lead to psychological problems and social exclusion.
prevention
The EEC syndrome is genetic in nature and therefore eludes preventive measures. Only prenatal diagnosis can be carried out. However, the disease hardly restricts the patients in their life expectancy.
aftercare
In the case of EEC syndrome, the measures or options for aftercare are usually very limited. Since this is also a congenital disease, it cannot be treated completely and can therefore only be treated purely symptomatically. A complete cure cannot be achieved.
The earlier the EEC syndrome is detected, the better the further course of the disease is usually. If the patient wishes to have children in the course of their lives, genetic counseling can also be carried out. This may prevent the syndrome from being passed on. The treatment of the EEC syndrome is usually carried out with the help of physiotherapy, so that the mobility of the person concerned is increased.
Some of the malformations can also be corrected. In many cases, those affected can do the exercises themselves at home and thus promote recovery. After an operation, it is important to rest in bed so that the body can recover. Psychological support is also very useful with EEC syndrome so that depression and other mental upsets do not occur. In most cases, the life expectancy of those affected is not reduced by the EEC syndrome.
You can do that yourself
In the case of the EEC syndrome, the patients have no opportunity to achieve a change or healing of the physical abnormalities with their own capacities. The hereditary disease has so far been considered incurable. Medical cooperation is required to correct certain impairments.
In everyday life, the person affected can take various measures to strengthen their emotional state. Participation in self-help groups or digital exchange with other sick people can be found to be very helpful. In contact, mutual support can be given and the challenges of dealing with the disease on a daily basis can be discussed. Relatives should inform the sick child as early as possible about the EEC syndrome, its symptoms and the course of the disease.
Building self-confidence and answering all questions are important to clear up any ambiguity and avoid surprises. Family members who also have EEC syndrome can share their experiences and provide support for the child. Together we can overcome obstacles in everyday life. The awareness should also focus on the strengths of the child. Joint activities in which a sense of achievement can be built up can be used to promote self-confidence and improve the quality of life.
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.