Robinow syndrome - an inherited disease that is characterized by an enlarged head, bulging forehead, completeness, underdeveloped external genitalia, brachydactyly limbs and other signs on the general background of underdevelopment.

First described the disease pediatrician and geneticist Meinhard Robin with colleagues Hugo Smith and Frederick Silverman in 1969. In 2002 clinical cases were studied and published photos Robinova syndrome in specialized medical literature. Earlier recessive form of the disease was known as Covesdem syndrome.

Symptoms of Robinow syndrome

Permanent signs of the disease are:

• microcephaly;
• broad nasal bridge;
• prominent forehead;
• short nose, inverted front nostril;
• mouth triangular shape;
• hypertelorism;
• epikant;
• malocclusion and teething;
• hypoplasia of the midface;
• gingival hyperplasia.

Children who are born with the disease, there is a prenatal hypoplasia. In the future, their growth slows. Robinow syndrome is characterized by skeletal abnormalities, such as shortening of the forearms, brahidaktiiya, hip dislocation, disturbance of vertebral development hypermobility interphalangeal joints. In women, there is hypoplasia of the clitoris and the labia minora, the men - the small size of the penis with or without cryptorchidism him. Some patients have had kidney disease, nail dystrophy.

The disease belongs to monogenic form onkogeneticheskih symptoms. There are two types of inheritance of the disease:

• autosomal dominant (most common);
• autosomal recessive.

In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced. Its symptoms may make severe bone deformation and destruction of the skeleton. Most people with a recessive form of the disease found in Oman, eastern Turkey, the former Czechoslovakia Republic. It is believed that the reason for this is the high degree of consanguinity of the population in these regions.

Consequences Robinova syndrome

The disease often leads to ear infections, hearing loss muscular hypotension, respiratory diseases. Approximately 15% of patients who have congenital heart disease. Given that generally the development of intelligence in patients remains at the level of a healthy man, 15% of patients revealed delays and mental retardation.

Diagnostics

In order to detect the disease at the stage of fetal development using prenatal DNA diagnosis. The diagnosis of patients established on the basis of common visual signs.

Treatment

Treatment of symptomatic syndrome Robinova.

Prevention 

Prevention of the disease is to determine the likelihood of having a child with this anomaly. To do this, conducted a survey of both parents, as well as installed instances of the disease in relatives.