Gaucher disease
A rather rare hereditary disease characterized by the fact that a patient accumulates fats of a certain type in the cells of bones and internal organs - glucocerebrosides. Gaucher disease…

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Gaucher disease
A rather rare hereditary disease characterized by the fact that a patient accumulates fats of a certain type in the cells of bones and internal organs - glucocerebrosides. Gaucher disease…

Continue reading →

How is an allergy to cold
Winter cold affects people in different ways. Some more tightly wrapped in fur coats and scarves and easily tolerate cold. They only occasionally notice: "frost is growing." Others, those who…

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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.

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