All You Need to Know about Robinow Syndrome and How to Treat It

Robinow syndrome is known as one type of inherited abnormality that is classified as rare and can affect different parts of the body through an attack on the development of the skeleton. This disorder is characterized by the presence of defects, especially in the head and also on the face. Prolonged dwarfism becomes one of the characteristics that accompany this syndrome.

Types and Symptoms of Robinow Syndrome

Human geneticist named Meinhard Robinow was the first to describe this syndrome in 1969 through the American Journal of Diseases of Children. At that time, there were 100 cases of Robinow syndrome conditions that had been reported and documented in 2002 to become medical literature.

The condition of this inherited abnormality in some cases can lead to death in child sufferers. Up until today, there are two types of Robinow syndrome known depending on the pattern of inheritance, namely:

Dominant Forms
Recessive Form (this form is also previously better known as Covesdem syndrome).

Robinow’s syndrome the dominant form usually triggers moderate symptoms while the recessive forms triggers more serious symptoms. The followings are some of the most important symptoms of the condition of Robinow’s syndrome that are most important to watch out for:

Children have small, inproportional head
Scoliosis, which sometimes is a side effect of sitting with legs crossed
Unnaturally small feet and hands but bigger thumbs.
Gum hypertrophy.
Overlapping teeth.
Fetus-shaped face.
Crooked little finger or clinodactyly
In recessive syndromes, patients may have a butterfly vertebra.
Vertebral fusion is not normal in some areas.
Imperfect formation of ribs.
Bones that are located on the thorax or the middle part of the spine experience partial or partial developmental delays.
Ankyloglossia or a condition in which tongue movement is limited and known as a tongue-tied.
Skeletal malformations, especially short fingers, toes and arms.
The shape of the upper lip forms like an inverse V letter.
Abnormal appearance of the lower eyelid so that it shows a prominent eye.

Causes of Robinow Syndrome

Because it is an inherited genetic abnormality, both dominant or recessive form of Robinow syndrome, genetic mutations are the underlying cause. Although researchers cannot fully understand which genes are capable of triggering the occurrence of dominant type of Robinow syndrome, it is known that recessive forms arise due to the mutation of the ROR2 gene and the location of this gene on chromosome 9.

It is true that Robinow syndrome is an inherited disorder caused by genetic and inheritance factors, even though there is no complete information about genetic patterns for the dominant type.

The following is a brief review of the causes of Robinow’s syndrome from genetic and inheritance factors.

Inheritance Factor – Dwarfism Robinow dominant form is basically inherited in the autosomal dominant pattern. Meanwhile, Robinow’s dwarfism recessive form is only following the autosomal recessive pattern of inheritance.
Genetic Factors – As mentioned earlier, only a fraction is known about the genetic pattern of the dominant form, even though the cause is known to be some type of gene mutation. Chromosome 1 which has an abnormality has been studied several times and is usually found in patients with the type of Robinow syndrome dominant form. Meanwhile, the ROR2 gene mutation is the main cause for recessive forms of the syndrome that result in abnormalities of the skeletal system as well as other physical abnormalities because the production of proteins supporting the development of the fetal skeletal system is disrupted by the ROR2 mutation.

Diagnosis and Treatment of Robinow Syndrome

After unnatural symptoms arise, it is important to take the inspection step. Because the symptoms of Robinow syndrome are too typical, it will be quite easy to make a diagnosis after a physical examination is done for the patient. But if the doctor feels that they needs to detect and evaluate the skeletal abnormalities at the same time, then X-ray examination is needed.

Apart from physical examination and X-rays, it is possible for patients to be able to take a prenatal diagnosis method through fetal ultrasound when the pregnancy period has entered the 19th week. With this prenatal examination, it can automatically detect a disorder or abnormality before delivery. This method is also works to treat thalassemia during pregnancy.

Because the symptoms of Robinow’s syndrome can also resemble the symptoms that refer to achondroplasia and omodisplasias, perhaps the characteristics of patients with Robinow syndrome are difficult to distinguish from the other two syndromes. For this reason, the diagnosis process is also carried out with the aim of distinguishing between recessive and dominant forms as well.

After being diagnosed with a positive result of Robinow syndrome, the doctor immediately provides appropriate treatment and treatment options. Treatments submitted by doctors are usually aimed at keeping the symptoms under control so that they can prevent other symptoms of the related disease. However, until now there is still no treatment that is known to cure the patient’s condition completely.

Counseling
Growth hormone therapy.
Dental therapy.
Surgery to correct a patient’s physical disability.

Between one patient and another is possible that different treatments are given depending on the condition of the symptoms. Surgery is one of the best ways to improve the physical condition of the sufferer. Besides drug and hormone therapy, counseling is still needed and needs to be taken routinely. The purpose of counseling here as part of the treatment is so that sufferers can cope with physical disabilities, and allow them to participate in various social events.

Is there a way to prevent Robinow syndrome?

Inherited or genetic abnormalities such as Robinow’s syndrome are quite difficult and even classified as impossible to prevent because we do not know the factors that cause the gene mutations. However, a special genetic examination is needed for married couples who have a medical history of this syndrome in their families.

Checking through genetic examinations as a way to prevent down syndrome, is very important because the couple is at more risk of having children with Robinow syndrome disorders. In order to avoid inherited defect to occur, consult to your doctor first about such medical history. If possible, treatment can also be taken as early as possible to prevent abnormal growth of the fetus later.

Recessive form of Robinow’s syndrome in newborns often times lead to death to an majority of children, whether it’s during infancy or when the child in toddlerhood. While for the dominant type of syndrome, the sufferer is still capable to survive normally.