Robinov's syndrome is a rare hereditary disease characterized by stunting, abnormal development of the head, face, skeleton, reproductive system. The facial features of children with a similar syndrome resemble an 8-week-old fetus, which is why this disease has a different name - “fetal face”. Features of the development of the craniofacial part can be manifested by an abnormally large head, bulge of the forehead, and wide eye sockets. The nose can be small, slightly upturned, and the nostrils are drawn into the nose, as it were.
Pathology Features
Robinov’s syndrome includes abnormalities in the development of the forearms, shortened toes, arms, small hands, fingers wide apart. Pathologies for the development of ribs, scoliosis, and the spine may be underdeveloped.
Among the deviations in the reproductive system, an abnormally small penis is distinguished, and in girls - clitoral hypoplasia and elongation of the labia.
In some cases, autosomal recessive changes are observed. This occurs with an autosomal recessive type of heredity. With this form, people have multiple bone abnormalities.
Forms
Robinov’s syndrome is attributed to the monogenic form of oncogenetic pathologies. There are two types of disease inheritance: autosomal recessive and autosomal dominant. In the latter case, clinical manifestations are poorly expressed, and some are generally absent. This form is most common.
In a recessive form, signs of Robinov's syndrome are expressed, up to severe skeletal developmental abnormalities. According to statistics, patients with this type are most often found in Oman, Turkey, and former Czechoslovakia. Scientists associate this with the consanguinity of people in these places.
Epidemiology
Robinov's syndrome occurs equally often in both sexes. According to medical records, one out of 500,000 children is born with this syndrome.
Causes
Most often, the pathology occurs in children whose parents have related blood. Scientists have found that an autosomal recessive form of the disease develops with a mutation in the ninth chromosome of the Ror2 gene, which is detected in a compound heterozygous or homozygous state. The gene encodes the subordinate structure of a protein from the glycoprotein family. With a mutation in the gene, autosomal dominant bradycardia may develop. In some cases, mutations occur in the Wntsa gene.
Clinical manifestations
The main signs of Robinov’s syndrome are different types of growth retardation, although there are cases when children grew to normal growth. In approximately 20% of cases of the detection of an ailment, mental retardation and a delay in the formation of language skills are diagnosed. Clinically, pathology is manifested by anomalies in the formation of the skeleton and other tissues.
In children, the lower jaw is small, the mouth can be wide, the chin is small. With the syndrome, uneven teeth are noted, growth retardation is delayed. In isolated cases, changes in the structure of the soft tissues of the throat are detected. Children may have a cleft palate.
In Robinov’s syndrome, abnormalities from various organs and systems are diagnosed in the form of duplication of the kidneys, hydronephrosis, umbilical and inguinal hernias. About a tenth of children are born with cardiac pathologies (congenital heart defects and other abnormalities).
Diagnostics
Sometimes Robinov’s syndrome is determined before the birth of the baby according to the results of ultrasound. But the final diagnosis can be confirmed only after the birth of a child on the basis of a clinical evaluation of a number of tests. An X-ray examination, an ultrasound scan are also prescribed.
Treatment
In the photo of Robinov’s syndrome, you can notice that the disease is manifested by impaired development of the skeleton of the face, growth. To change external data, carry out different types of operations. This can be the elimination of hernias, facial abnormalities and other defects.