Prevalence and diagnosis of the syndrome Mekele – Gruber

Syndrome Mekele – Gruber – a rare hereditary disease that always causes death of the fetus either in utero or immediately after birth. It was first described in 1822, and it was done by Johann Friedrich Meckel. Later the description was added by a doctor by the name of Gruber, so the name of the pathology brings together the names of these two authors.

Pathology develops when mutations 6 different parts of different chromosomes. Only 200 cases. Most of them in Finland, because of the disease exclusively belonging to the Finnish population.

The main manifestations should be considered only three symptoms – an occipital encephalocele, polycystic kidneys and polydactyly. Concomitant symptoms can be considered problems in the development of the oral cavity, liver fibrosis, congenital anomalies of the Central nervous system.

The main cause of death – underdevelopment of the lung tissue.

The prevalence

Worldwide, the frequency of occurrence is small – 1 case of 140 thousand children who were born alive. In Finland this figure is different – here the frequency is 1 case per 9 thousand babies who were born alive. In addition, every fiftieth resident of this country is a carrier of a mutant gene.

Increased rates of carriage in Belgium and in Kuwait, and here they account for one in every 30 people. In other countries the disease is recorded with a low frequency, and carriers a minimum amount.


Syndrome Mekele – Gruber is a rare autosomal recessive disorder. His main reason for getting one mutant gene from each parent, i.e., father and mother must be carriers of such genes. No more causes of pathology are not observed.


The fetus during intrauterine development diagnosed multiple malformations that are not compatible with life. All this, and particularly occipital encephalocele, polycystic kidneys, can be detected on ultrasound in 10 weeks of pregnancy.

Gross malformations of the Central nervous system are mainly represented encephalocele. This cystic formation may be the cerebellum, third ventricle, sometimes coming in the fourth ventricle of the brain. There is hydrocephalus. In addition, the brain may not at all, what is called anencephaly, or be present in a minimum size – microcephaly.

Malformations of the heart, blood vessels and hypoplasia of the lungs is the main cause of death. The kidneys may be enlarged 10-20 times their normal size. They operate poorly, which causes oligohydramnios in utero fetus.

This all leads to other vices limbs – polydactyly-i.e. the hands or feet may be formed of one excess finger.


The best method of diagnosis is a chromosome analysis. In addition, it is possible to distinguish two completely different diseases that resemble each other, namely trisomy 13 syndrome Mekele-Gruber.

Amniocentesis cannot be performed because of water shortage, but you can do a biopsy of the chorion. However, the most commonly used noninvasive diagnostic method such as ultrasound, especially four-dimensional, which allows us to reveal the ugliness of the face, arms, legs and head.

The perfect time is the second trimester of pregnancy, that is 12 – 14 weeks of pregnancy. Doppler ultrasound will allow you to identify all anomalies of the lung tissue, and also developmental abnormalities of the kidneys. Encephalocele is easily diagnosed already at the 10th week of pregnancy. Part of the brain and the meninges at that time already beginning to act as a hernia SAC.

If ultrasound data is not enough, and the woman refuses invasive diagnostic testing, you can use MRI examination of the fetus, which will show all defects of the Central nervous system.


The treatment of this genetic anomaly does not exist. Death occurs either in utero or immediately after birth due to underdevelopment of the lung tissue. The duration of life ranges from several minutes to several days.

Among the most frequent and fatal complications should be called pulmonary hypoplasia, renal and hepatic failure.

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