Dizziness after eating
Usually the head is spinning from hunger, but it happens that this unpleasant phenomenon occurs after eating. Dizziness may be accompanied by nausea, noise or ringing in the ears and…

Continue reading →

Food intolerance and allergies: what is the difference?
These two pathological conditions are often confused. But in fact they are completely different for reasons, and for the mechanism of action, and for symptoms, and for prognosis. Treatment for…

Continue reading →

Signs of rubella
Rubella is an acute viral infectious disease. Her symptoms were first described by the German physician F. Hoffmann in 1740, but the causes of the disease became known only in…

Continue reading →

Unusual Diseases: Aarskog Syndrome

Aarskog’s syndrome, aka Aaskorg-Scott syndrome, aka faciosydigitogenital dysplasia, is a very rare hereditary disease: it occurs in one out of a million people. It manifests itself as pathological changes in the face, bones, genitals. Mostly men suffer from this disease, women are carriers of this pathology, and in them it can manifest itself only in a mild form.

Causes of Aarskog syndrome
This disease is genetic and is caused by mutations in the gene associated with the X chromosome. As you know, women have two sex X chromosomes, and men have X and Y chromosomes. They are passed on to children from their parents. This explains the fact that boys who are transmitted from the mother carrier are at risk of getting the mutated gene along with the X chromosome. In girls, even in the case of a defective gene, another chromosome remains, which compensates for the pathology. As a result, their disease manifests itself in a milder form.

Manifestations of Aarskog’s syndrome
The first symptoms of the disease can be detected in a child when he reaches the age of three.

As already noted, the disease affects the face, bones and reproductive system.

Typical signs of facial syndrome include:

round face and wide forehead;
lowered eyelids;
a small wide nose with nostrils turned forward;
slanting wide-set eyes;
wide furrow above the lip;
low-set ears with thick earlobes;
poorly developed upper jaw and lag in teething, some teeth may be absent altogether;
sometimes a cleft lip is found.
Signs of Aarskog’s Syndrome
On the part of the skeletal system with Aaskorg syndrome, the following features are noted:

too small stature;
hollow chest;
curvature of the little fingers;
disproportionately short fingers and toes, and on hands, partial finger jointing (leather fold between the fingers) is possible.
Reproductive system disorders include:

cryptorchidism (undescended testes);
inguinal hernia;
deformed scrotum;
penis abnormalities
delayed sexual development.
In addition, in children with Aarskog’s syndrome, mental abnormalities can be observed:

ADHD – attention deficit hyperactivity disorder;
cognitive impairment;
deviations in mental development.
Diagnosis and treatment of Aarskog syndrome
The diagnosis is made on the basis of examination of the child and identification of characteristic deviations in the structure of the face, as well as a survey of parents about cases of such a disease in the family. An X-ray of the face and skull is performed to confirm the diagnosis. Genetic testing may also be performed.

Unfortunately, today there are no ways to completely cure this pathology. Surgical operations are performed to treat inguinal hernia, cryptorchidism, cleft lip. Orthodontic treatment is also performed to correct tooth abnormalities.

Children with mental disorders (such as statistically 30% of all patients) are recommended treatment by a psychotherapist.

A hereditary predisposition to Aarskog syndrome can be detected at the stage of pregnancy planning by performing genetic studies.

Body acidification - what is it? Signs and Causes
Our body is a very complex system, where millions of various biochemical processes continuously occur. In order for it to work smoothly, it is necessary to maintain certain constant parameters:…


Bags under the eyes: what to do?
Before undertaking anything, it is necessary to find out the cause of this unpleasant phenomenon. Only then can you find a way to get rid of bags under the eyes.…


Thick blood: what is it and what needs to be done
What does thick blood mean Blood is a biological fluid, consisting of liquid plasma, in which in certain quantities in suspension there are cells - red blood cells, white blood…


Anaphylactic shock: what to do before the ambulance arrives?
Anaphylactic shock: what to do before the ambulance arrives? Anaphylaxis, also called anaphylactic shock, is an allergic reaction that proceeds extremely severely and is deadly. How does anaphylactic shock develop?…