Robinow syndrome is a rare genetic disorder in which the patients have features of dwarfism and abnormalities in their facial structure. These patients have a wide variety of skeletal deformities. As children, patients may have facial features that resemble those of a fetus. They may have small hands and feet, fused vertebrae, and genital defects.
First described in 1969 by Meinhard Robinow and colleagues Frederic Silverman and Hugo Smith, Robinow syndrome is an autosomal genetic disorder. Autosomal refers to chromosomes that are present in both males and females. This disease can be inherited from either the mother or father and is not linked to the sex chromosomes.
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Robinow syndrome can either be autosomal recessive, in which two copies of the gene have been passed to the child, or autosomal dominant, in which only one copy of the gene is necessary for the patient to show signs of the disease. Patients with autosomal recessive Robinow syndrome have more severe symptoms, making this form of the disease easier to diagnose. These patients are usually short in height, are more likely to have fused vertebrae in the lumbar region, and may have ribs that are fused.
The autosomal recessive patient may also have very crowded teeth and an inverted v-shaped upper lip. Researchers have identified a mutation in the ROR2 gene on chromosome 9 as the cause of the recessive Robinow syndrome. The ROR2 gene is involved in the growth and development of the skeleton.
Researchers have not yet identified the gene responsible for the autosomal dominant form of Robinow syndrome. The dominant form is more common and patients with this disorder may have very moderate symptoms and can be a normal height. They may still have facial features characteristic of this disorder, but they may not be as noticeable as those with the recessive form. That makes the autosomal dominant form more difficult for a physician to diagnose.
A physician will need to do a complete physical examination of the patient to diagnose this disorder. X-rays can be taken to evaluate any skeletal abnormalities, but each patient may have only some of the characteristics of the disease. performing an ultrasound on a pregnant woman who may be a carrier allows the physician to diagnose the recessive form of Robinow syndrome at 19 weeks into the pregnancy.
Patients with the autosomal dominant form may have moderate genital abnormalities. They may still be fertile and able to have children, but there is a chance the disorder would be passed to the next generation. Genetic counseling and understanding all the effects of both the dominant and recessive forms should help these patients who wish to have children.