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Robinow syndrome is a rare genetic disorder causing dwarfism and facial abnormalities. It can be autosomal recessive or dominant, with the recessive form having more severe symptoms. Researchers have identified a mutation in the ROR2 gene as the cause of the recessive form. The dominant form is more difficult to diagnose and may have moderate symptoms. A complete physical examination and X-rays are needed for diagnosis, and genetic counseling is recommended for patients who wish to have children.
Robinow syndrome is a rare genetic disorder in which patients have features of dwarfism and abnormalities in 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 the chromosomes that are present in both males and females. This disease can be inherited from the mother or father and is not linked to the sex chromosomes.
Robinow syndrome can be autosomal recessive, in which the child is given two copies of the gene, or autosomal dominant, in which only one copy of the gene is needed for the patient to show signs of the disease. Patients with autosomal recessive Robinow syndrome have more severe symptoms, making it easier to diagnose this form of the disease. These patients are usually short in stature, are more likely to have fused vertebrae in the lower back, and may have fused ribs.
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 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 of 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. This makes the autosomal dominant form more difficult for a doctor to diagnose.
A doctor will need to perform a complete physical examination of the patient to diagnose this disorder. X-rays may be taken to evaluate for skeletal abnormalities, but each patient may have only some of the characteristics of the disease. doing an ultrasound scan on a pregnant woman who may be a carrier allows the doctor 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 that the disorder will be passed on to the next generation. Genetic counseling and an understanding of the full effects of both the dominant and recessive forms should help these patients who wish to have children.
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