Aarskog-Scott syndrome is a genetic disorder that is extremely rare and is caused by a mutation on the X chromosome. Above all, the body size, bones, muscles, facial features and genitals are affected.
The disease usually occurs only in men, women often develop only a lighter form of the syndrome. Normally, the symptoms occur up to the third year of life.
The cause of Aarskog-Scott syndrome is a mutation of the so-called faciogenital dysplasia gene (FGD1 gene), which is linked to the X chromosome. Parents inherit X chromosomes to the children. Since male children have only one X chromosome, the genetic defect is likely to be inherited from the mother.
Female children, on the other hand, have two X chromosomes. So if a chromosome has the gene defect, the second chromosome can compensate for it. Because of this, female sufferers develop a lighter form of the syndrome.
Aarskog syndrome is characterized by anomalies of the genitals, facial features, feet and hands, and a short stature. The affected have a snub nose with wide nose bridge, a broad forehead and a round face, usually the cornea of the eyes is changed. The hands are often relatively broad and short and ossification or adhesions can be detected on the carpal bones.
The fingers are over-jointed and the finger-middle bone can be overstretched, which is also called hypermobility syndrome. In addition, a so-called clinodactyly is recognizable, that is, the finger member can bend laterally. The same applies to the feet. The tarsal bones are ossified, the toes angled and feet rather thick and short. Over time, the facial abnormalities can regress.
In addition, motor development and sexual maturation are often delayed. Myopia and strabismus occur in many patients, but more complex eye changes are also noted. The palate can also be heavily ossified, also described are misaligned teeth or a so-called "bad bite". Also, the upper jaw is often underdeveloped, which is referred to as so-called "maxillary hypoplasia".
Other symptoms include a pointed hairline, forward-facing nostrils, and almond-shaped and / or widely spaced eyes. The ears are often folded down, over the upper lip is a pit, furthermore, can hang eyelids and delayed tooth growth occur.
In addition, the bones and muscles may also be malformed. Signs of these abnormalities include a funnel chest, webbed fingers and toes, and wrinkles in the palm of the hand.
Malformations of the genitals include testicular retention, a lump in the groin or in the scrotum, a delayed sexual maturity or an anomaly of the scrotum.
Furthermore, it can also lead to developmental disorders of the brain. As a result, cognitive performance is slowed, sufferers often suffer from attention deficit syndrome (ADHD / ADD), and cognitive development is also delayed. These abnormalities usually improve after puberty or disappear quite often in adulthood.
In most cases, a slight retardation can be detected, so sometimes an intelligence test is performed. Frequently, the results are in the average or low range, high IQ scores are hardly recorded in those affected.
Most often, the doctor first examines the child's facial features to determine if it is affected by Aarskog-Scott syndrome. This is followed by a family history and a physical examination. If the physician suspects Aarskog-Scott syndrome, a genetic test can also be ordered. Furthermore, an X-ray is also useful, so that the severity of anomalies caused by the syndrome can be determined.
Aarskog-Scott syndrome has many different complications. A complete cure of the symptom is unfortunately not possible. However, the malpositions can be eliminated by surgical intervention. In addition to the syndrome itself, the patient often suffers from dwarfism.
The affected person's hands and feet as well as the genitals and mouth are abnormal. The hands look wide. Small and fat feet make walking difficult for the patient, which means that they can only move about a little in everyday life. People with Aarskog-Scott syndrome also have vision problems.
Sexual activity is also adversely affected by the symptom. The affected people are often characterized by malpositions of the teeth and a displaced dentition. The malformations themselves can be corrected in many cases, so there are no further complications.
This is especially true for testicles, teeth and bones. However, patients also suffer from delayed development, which can lead to disability and exclusion in life. Not infrequently, there are also psychological problems. Most of the people affected depend on the help of other people in everyday life. The probability for boys to be born with this symptom is higher than for girls.
The Aarskog-Scott syndrome can often be detected on the basis of the striking symptoms already in the ultrasound examination. At the latest at the birth of the child, the genetic defect can be detected and diagnosed by the doctor as the Aarskog-Scott syndrome. A family history or a genetic test makes a clear diagnosis possible. In addition, the parents must visit a doctor regularly.
Thus, the misalignments can cause a number of complications that need to be treated medically in each case. If symptoms of attention deficit syndrome are noticed, a behavioral therapist must be consulted. In case of visual and hearing disorders, advice should be given immediately to the appropriate specialist. Although the symptoms do not disappear through comprehensive therapy, life with them is relieved.
The affected person should also consult a doctor later in life. This can inform about the symptoms and complaints associated with the Aarskog-Scott syndrome, and give tips on how to deal with them. Since the malformations often lead to exclusion and a reduced self-esteem, a psychotherapeutic counseling is useful.
An Aarskog-Scott syndrome is not curable. As part of a treatment, a correction of the malformations that occur on the tissue, the bones or on the teeth of those affected. In many cases, surgical procedures are required. These include:
Other treatments include measures to support cognitive developmental delays. If the child suffers from attention deficit syndrome, special therapies are also required. Here, a behavioral therapist can assist the parents.
The Aarskog-Scott syndrome usually causes different malformations and short stature. Malformations often affect children with teasing and bullying. The syndrome causes severe anomalies on the feet and hands that make the patient's life more difficult. The symptoms can also lead to mental discomfort and depression.
The patient's vision and hearing are also limited by the Aarskog-Scott syndrome and there is deformation on the teeth that causes pain. As a rule, these deformations can be treated surgically. The mental and motor development of the child can be delayed, so that the patients are dependent on support in everyday life. In adulthood, however, those affected usually cope well, so there are no restrictions later.
In most cases there are no further complaints during the treatment, many malformations can be compensated with the help of surgery.
The likelihood of developing Aarskog-Scott syndrome may be increased by two factors: genetic predisposition and gender. If a child is male, the likelihood of developing a genetic defect is higher because it has only one X chromosome. Thus, if the mother carries the defective gene, the risk to the child that this defect develops is increased.
In principle, Aarskog-Scott syndrome can not be prevented. Women have the opportunity to undergo a genetic test to detect a mutated FGD-1 gene. If one carries the mutated gene in oneself, then one can decide whether one would like to have a child or not.
Some of the malformations caused by the genetic defect can be repaired surgically. Nevertheless, those affected will have to live with restrictions throughout their lives. However, most of them can handle their everyday lives in adulthood.
Especially in childhood, the young patients suffer from bullying. A stable family environment is the most important support. Parents should not be afraid to seek psychological support for themselves and their child. Only self-confident and well-established parents can convey this to their child. Also, the pedagogical literature offers methods to playfully strengthen the child's self-esteem. Self-help groups form a very good platform for the exchange of experience. During school hours, an attention deficit syndrome may be added. A special behavioral therapy could support this.
In everyday life, parents should pay attention to the consistent performance of motor and speech therapy exercises. This is important in addition to the treatment with the therapist. Depending on the severity of the disease, lifelong support for those affected may be necessary. If parents can not do this anymore - possibly because of the need to care for other children or if the physical and psychological burdens are too great - a caregiver should be called on. Housing accommodation can also be discussed without hesitation. Your own health should not disregard parents.Tags: