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Surely you have ever heard of Kabuki, which is the traditional Japanese theater, and in which the actors use a very particular makeup with the intention of having a kind of mask. The facial appearance of those affected by kabuki mask syndrome, subject that we are going to deal with in this post, it is quite reminiscent of this mask, hence the name by which this rare disease is known.
It is a very particular and very recent clinical picture. The first case described dates from 1981 and to date only 400 cases have been diagnosed worldwide, which is why it belongs to the group of so-called rare diseases. Precisely because of its low incidence, it is more interesting to disseminate it, and to provide maximum shelter for affected people.
In Guiainfantil.com we want to give answers to all those questions that are generated around the Kabuki mask syndrome.
1. Does it selectively affect people of Japanese origin?
No, the first cases described had eastern origin, but according to the Kabuki mask syndrome cases were accumulating, patients of Caucasian origin were also reported.
2. Is it more common in females than males?
At this point, there is no difference and there are no statistics to ensure whether it affects one sex differently than the other, so it can harm both boys and girls in the same way.
3. Is the cause that generates the appearance of this syndrome known?
The first cases described did not have any specific inheritance pattern. They were, therefore, sporadic, for no obvious reason. Later, several implicated genetic mutations were identified, in cases with autosomal dominant inheritance.
4. What are the most significant clinical manifestations?
A multitude of alterations have been described, such as recurrent otitis, bile duct atresia, low platelets or low immunoglobulins, mental retardation, ectodermal alterations (tooth and hair involvement) or short stature.
Other significant clinical manifestations are alterations of the skeleton (wide fingers, alterations of the folds of the hand and the pads of the fingers and toes), hypotonia (it is a form of muscle weakness, characterized by the fact that the muscles offer low resistance to movements The weakness is typically greater in the face, as well as in the scapular and pelvic girdles, hence some authors refer to this entity as facioscapulohumeral dystrophy), a face with low expressiveness (due to the loss of tone of the facial muscles), appearance of an epicantus (folds on the inner corner of the eyes), arched eyebrows, a wide and depressed nose (as if it were a boxer's nose) and incomplete closure of the palate (which does not always appear).
5. What conditions the survival of people with Kabuki mask syndrome?
The progression of the muscle problem determines the survival rate of people with kabuki syndrome. The problem is that the diaphragmatic muscle, which conditions breathing, stops working properly.
6. Can the onset of the disease be prevented?
In affected families with the desire to have offspring, a preimplantation embryo selection can be made (selecting embryos that do not suffer from the genetic defect), and a subsequent in vitro fertilization. This is what is known as the Karyomapping technique.
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