What is dangerous stagnation of blood in the pelvis
Lack of exercise is a real scourge of modern society. People spend a lot of time in a sitting position in offices, in front of television screens or monitors. Of…

Continue reading →

What you can catch when swimming and how to avoid it
As soon as warm days are set, the first most seasoned citizens open the bathing season. Well, when the heat comes, literally everyone rushes to the water. On such days,…

Continue reading →

What is vaccination for?
The topic of vaccination is very acute. Fierce debate about whether vaccinations should be given, whether it is safe, do not subside. Doctors convince us that vaccination alone can protect…

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.

Urticaria on the body
Urticaria is not one, but a whole group of diseases that have a different nature, but have the same symptoms - the appearance on the skin of blisters similar to…


How to relieve allergies in the spring
For many people, spring sunny days are overshadowed by sneezing, coughing, red eyes and a runny nose. 40% of the adult population suffers from seasonal allergies, and the peak of…


How to determine vitamin deficiency
Vitamin deficiency - a deficiency of vitamins in the body - manifests itself in different ways depending on which vitamin is missing. More often faced with a lack of several…


How often do you need to be tested
Excellent health few can boast of. Bad ecology, a busy rhythm of life, heredity, bad habits contribute to the development of diseases. And even half of those who are confident…