Pallister-Killian syndrome is a hereditary disease that leads to various anatomical abnormalities. In Germany and the surrounding countries, only 38 cases of the syndrome are currently known. Thus, Pallister-Killian syndrome is a very rare condition.
What is Pallister-Killian Syndrome?
Pallister -Killian syndrome, also known as Teschler-Nicola syndrome or tetrasomy 12p mosaicism, is a genetically inherited condition. The syndrome was first diagnosed by pediatrician and geneticist Philip D. Pallister. The Austrian doctor Wolfgang Killian and the human biologist Maria Teschler-Nicola observed independently of Dr. Pallister 1981 found the same symptoms in four people.
There is a chromosomal abnormality in people with Pallister-Killian syndrome. This chromosomal change is actually not that rare. However, the children affected usually die before birth, often even in the first trimester of pregnancy, so that many of these pregnancies go unnoticed. See gradinmath for What is Hypertrophy.
The cause of Pallister-Killian syndrome lies on the twelfth chromosome. Chromosomes are located in the cell nucleus. They are actually not visible there; their structure can only be clearly seen during cell division. The chromosome consists of two so-called chromatids, which are connected in the middle by the centromere, a kind of constriction. The chromosome thus looks like an X. Above the centromere, i.e. in the upper part of the X, there are two short arms.
These are also called p-arms, where the p stands for petite (French small). Below the centromere are two longer arms, the q-arms. People with Pallister-Killian syndrome have quadruple p-arms instead of duplicates in some of their body cells. The two extra p-arms merge into a small chromosome 47. This is called isochromosome 12p. The chromosomal disorder is caused by faulty germ cell maturation in the child’s mother or father.
Symptoms, Ailments & Signs
Unlike other chromosomal disorders, such as trisomy 21, Pallister-Killian syndrome is not diagnosed before birth in most cases. Pregnancy usually proceeds without complications. The birth often takes place in the normal way and at the right time. The children are of normal birth weight and height. However, the symptoms of the syndrome are diverse and sometimes very serious.
Due to a brain malfunction, the children only have a very slack muscle tone. Muscle tone is the state of tension in the muscles. If this is too limp, the children can, for example, sit up very late or have problems lifting or holding their heads when breastfeeding. The unusual appearance of the children is striking. Her face is very long, her forehead protruding. The lid axis runs obliquely upwards and outwards. The root of the nose is broad and misaligned teeth lead to visual abnormalities in the mouth area.
The hair grows rather sparsely, especially in the area of the temples. An uneven distribution of pigment causes the skin to appear mottled, especially on the stomach, back, arms and legs. Most children with Pallister-Killian syndrome have severe intellectual disabilities. They suffer from severe language development disorders, sometimes they remain mute.
In addition to these common symptoms, children may also have extra fingers or toes. Difficult-to-control epileptic seizures, visual disturbances, heart defects and genital malformations can also occur. A high susceptibility to infections is also typical of Pallister-Killian syndrome.
Diagnosis & course of disease
Pallister-Killian syndrome is difficult to diagnose. Routine examinations of the chromosomes often falsely show an inconspicuous picture. A skin biopsy is performed on the children for definitive proof. The chromosomal abnormality can then be detected in the skin cells cultivated in this way. Prenatal diagnosis is also rather uncertain, because the chromosomal disorder does not appear in all cells.
If normal amniotic fluid cells are taken for prenatal diagnostics, the child can be born with Pallister-Killian syndrome despite these normal diagnostic findings. People with the disease are severely restricted in their development and depend on physical help and intensive care throughout their lives. Life expectancy depends on the severity of organ symptoms. There are people with Pallister-Killian Syndrome who have lived to their 40s.
Due to Pallister-Killian syndrome, those affected suffer from various deformities and malformations. As a rule, the complications and limitations for this reason also depend very much on the type and severity of these malformations. In most cases, the children experience muscle wasting and a permanent state of muscle tension.
It can also cause problems when holding the head upright. The unusual appearance of children, especially when they are young, often leads to bullying or teasing, so that the children can also suffer from psychological problems or depression. In the oral cavity, those affected have misaligned teeth, which can also lead to pain. Pallister-Killian syndrome also leads to mental retardation, leaving patients with very severe mental disabilities.
For this reason, they are usually dependent on the help of other people in their lives. Heart defects or visual disturbances also occur due to Pallister-Killian syndrome. A causal treatment of Pallister-Killian syndrome is not possible. With the help of various therapies, the symptoms can be partially reduced. However, a completely positive course of the disease does not occur.
When should you go to the doctor?
Parents who notice muscle disorders, deformities or the typical thinning hair in their child should consult the pediatrician . Pallister-Kilian syndrome is usually diagnosed immediately after birth or as part of a prenatal genetic test. If the symptoms are mild, the disease often only becomes apparent in the first weeks and months of life. The treatment takes place in a special center for hereditary diseases.
If this happens early, the patient can lead a relatively normal and symptom-free life. Pallister-Killian syndrome is associated with various malformations and symptoms. Depending on the symptoms, it is treated by orthopaedists, ophthalmologists, ear specialists and cardiologists, among others. Any malformations are first corrected surgically. Then comes the physiotherapy treatment.
Since the sick children often have weak muscles, a physiotherapist has to be called in. There is also an increased risk of infections, which is compensated for by various vaccinations and the administration of suitable medication. Despite all the measures, the patients have permanent motor impairments and need the support of a trained nurse. Therapeutic treatment supports the mental development of the sick children, who are often excluded or bullied because of their condition. Parents should get in touch with special needs schools and kindergartens at an early stage so that the child receives suitable school support.
Treatment & Therapy
Since it is a genetically inherited disease, a causal therapy of the syndrome is not possible. Therapy only addresses the symptoms. Since the children are very limited in their movements and also show little initiative, individual support is very important. Various therapeutic approaches aim to introduce the children to the abstract world of thinking. Brain function is stimulated through various sensory impressions such as hearing, seeing and touching.
The therapists hope that the children’s social intelligence will be promoted through increased attention from the caregivers. A focus is also placed on language development. The understanding of the language should be stimulated and expanded through various language offers. Various ergotherapeutic and physiotherapeutic methods are used to treat muscular flaccidity. The goal of therapy is improved postural control. If there are problems breathing or eating due to the misaligned teeth or the changed structure of the nose, surgical intervention may be necessary.
The same applies if there is a heart defect. In some cases, however, heart defects are also treated with medication. If the disease causes tumors, chemotherapeutic treatment may be necessary.
Outlook & Forecast
In diseases as rare as Pallister-Killian syndrome, the prognosis is poor simply because there is little research and few treatment options. So far, only 70 cases have become known worldwide. However, the doctors assume that the number of unreported cases is higher. The genetic disease is difficult to prove.
The reason for the low prevalence of Pallister-Killian syndrome is a change in certain chromosomes. This usually leads to abortion of the fetus. Few children survive the pregnancy. The large number of neurological and cognitive disorders and malformations can only be treated symptomatically, if at all. Many of those affected need lifelong support from carers. The age of those affected depends on the type and severity of their disabilities. Epilepsy often develops in adolescence.
Malpositions or scoliosis in the spine can be corrected or alleviated surgically. The muscles are not developing properly. The children are weak and often have learning disabilities. Heart defects or diaphragmatic hernias can lead to death in the operation of affected newborns. With good management of postpartum problems and good care, children with Pallister-Killian syndrome can live to a middle age of around forty years.
The prognosis varies from person to person. Immune disorders often cause severe breathing problems as a result of respiratory infections. Some of those affected die at a young age.
Pallister-Killian syndrome results from defective germ cell maturation in one parent. This chromosomal change cannot be prevented. Prevention of the disease is therefore not possible.
In most cases, those affected with Pallister-Killian syndrome have very few or no special follow-up measures available. Therefore, sufferers of this disease should consult a doctor very early on to prevent the occurrence of further complications and symptoms. If there is a desire to have children, a genetic examination and counseling can also be useful to prevent the recurrence of Pallister-Killian syndrome.
A doctor should therefore be contacted as soon as the first signs and symptoms of the disease appear. Most of those affected are dependent on various measures of physiotherapy or physiotherapy for this disease. Many of the exercises can also be repeated at home, which speeds up the treatment.
In the case of tumors, regular checks should be carried out by a doctor in order to identify other tumors at an early stage and then treat them. Children with Pallister-Killian Syndrome require intensive support and care. Especially at school, the children have to be given special support so that there are no complaints in adulthood. Whether the disease will lead to a reduced life expectancy cannot be universally predicted.
You can do that yourself
Patients suffering from Pallister-Killian syndrome require ongoing home care. The sick children have to attend a special kindergarten and later a special school for disabled children. Parents should ensure that the child can establish a social network from an early age in order to reduce the risk of mental disorders.
In addition, the diet must be changed. Affected children should eat gentle foods to counteract the often sensitive teeth and inflammation in the mouth. If the child has a heart defect or is suffering from tumors, constant monitoring is required. In the event of complications, the emergency doctor must be called immediately, as there is an acute danger to life. If the child survives the first years of life well, physiotherapy can be started, which must be individually tailored depending on the symptoms.
Pallister-Killian syndrome also affects posture and the ability to move individual parts of the body, which is why supportive help with walking aids, wheelchairs and the like is always required. Structural changes usually have to be made at home so that the special physical requirements of the child can be met. At the same time, the parents must consult closely with the medical team so that the therapy can be regularly adapted to the child’s current state of health.