What is Robinow's syndrome?

Robinow's syndrome is a rare genetic disorder in which patients have dwarf features and abnormalities in their face structure. These patients have a wide range of skeletal deformities. As children, patients may have facial features that resemble fruits. They can have small hands and legs, molten vertebrae and genital defects. Autosomal refers to chromosomes that are present in both men and women. This disease can be inherited either from the mother or father and is not associated with sex chromosomes.

Robinow's syndrome can be either autosomal recessive, in which two copies of the gene were handed over to the child or autosomal dominant, in which only one copy of the gene is necessary for the patient to show signs of disease. Patients with autosomal recessive Robinow syndrome have more serious symptoms, making it easier to diagnose this form of the disease. These patients are usually short heights, it is more likely that they combine vertebrae in the lumbar region and may have ribs that are fused.

AutosomalA recessive patient can also have very crowded teeth and the inverted upper V -shaped lip. The Ror2 gene is involved in the growth and development of the skeleton.

Scientists have not yet identified the gene responsible for the autosomal dominant form of the Robinow syndrome. The dominant form is more common and patients with this disorder can have very mild symptoms and may be normal height. They may still have characteristic facial features, but may not be as evident as those that have a recessive form. This makes it possible to diagnose autosomal dominant for doctors.

The physician will have to perform a complete physical examination of the patient to diagnose this disorder. X -rays can be taken to evaluate any skeletal abnormalities, but each patient can only have some of the disease characteristics. ImplementationLtrazvuku on a pregnant woman, who can be a carrier, allows the doctor to diagnose the recessive form of Robinow's syndrome after 19 weeks to pregnancy.

patients with autosomal dominant form may have mild genital abnormalities. They can still be fertile and able to have children, but there is a chance that the failure is handed over to the next generation. Genetic counseling and understanding all the effects of dominant and recessive forms should help these patients who want to have children.