2 Causes of Robinow Syndrome and Treatments

Robinow Syndrome is known as a genetic disorder and it is very rare. It can affect many different part of the body through its attack to human’s skeleton development. This disorder is marked by defect in the head as well as the face. Long term dwarfism is also one of several characteristics following this syndrome. Read also: Home Remedies for Post Traumatic Stress Disorder

Type and Symptoms

Human genetic experts named Meinhard Robinow was the first person described this syndrome in 1969 through American Journal of Disease of Children. At that time, there were 100 cases of Robinow Syndrome which had been reported as well as documented as medical literature in 2002.

This genetic disorder in several cases can cause death to the person since their childhood. It is also known that there are two types of Robinow Syndrome which are depended on the genetic patterns. Here they are:

  • Dominant form
  • Recessive form (This type of Robinow Syndrome is also known as Covesdem Syndrome)

Dominant form of Robinow Syndrome is usually triggering moderate symptoms and for the recessive form, it can be the trigger of more serious symptoms. Here are several common symptoms of Robinow Syndrome which are very important to be noticed:

  • Children have their head’s size is smaller than normal one.
  • Scoliosis
  • Feet and hands have abnormal size (small) but the thumb is big.
  • Gum hypertrophy
  • Teeth stacked.
  • The face form is similar to fetus.
  • Clinodactyly (Crooked little finger).
  • For the recessive type of the syndrome, the person may have butterfly vertebra.
  • Vertebra’s function is abnormal is some area.
  • The ribs are not perfectly formed.
  • The bones located in thorax or the middle part of spine experience a slow development partially.
  • Ankyloglossia or a condition which makes the tongue movement is limited.
  • The skeletal is malformed, especially in the fingers, toes, and small arm.
  • The upper lip forms reversion of V.
  • Abnormal shape in the lower eyelids which cause it looks like the eye is prominent.

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The causes of robinow syndrome

Since it is a genetic disorder, either the dominant or recessive one, then genetic mutation is the main factor which alleged as the factor causing Robinow Syndrome. Even though the scientists have not completely investigated what kind of gen which can cause the dominant form of this syndrome, it is already found that for the recessive type, it is caused by gen ROR2 and it is located in the Chromosome 9. 

It is correct that Robinow Syndrome is a disorder caused by genetic disroder although there is no complete information regarding this genetic pattern for the syndrome with dominant type. Here is a brief explanation of the causes of Robinow Syndrome either from genetic or inheritance.

  • Inheritance factor – Dwarfisme Robinow is a dominant form which is basically inherited within the dominant auto-some whereas the recessive form of Dwarfisme Robinow is only a follower from the auto-some recessive inheritance type.
  • Genetic factor – As mentioned before that genetic pattern from dominant form has not fully discovered although the cause is known from genetic mutation. Chromosome 1 which is having disorder has several times been investigated and usually found in the person with dominant form of Robinow Syndrome. Also, genetic mutation of ROR2 is the main cause for the recessive syndrome which then cause abnormality of the skeletal system as well as physical disorders because the protein production supporting fetuses system development is disrupted by the genetic mutation of ROR2.

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Diagnose and The Treatments

After the abnormal symptoms appear, it is important to take medical check up. Since the symptoms of this Robinow Syndrome is typical, it is easy enough to release the diagnose after the physical check up taken to the patients. Nevertheless, if the doctors think that it is required to detect as well as to evaluate the skeletal disorder of the person, the doctor needs to take X-Ray check up.

Afterward, the patient can take prenatal diagnose process through fetus’ ultrasound in the 19th weeks of pregnancy. By this process, it can automatically detect the disorder before labor. Since the symptoms are similar with Achondroplasia patients and it is hard to differ these two disorder, the diagnosis process is needed to do to differ it is whether the recessive or dominant form of the disorder. 

After positively diagnosed, the doctor will give several recommendations as well as proper treatment. The treatment will be given to keep the symptoms controlled and to prevent other disorders related to Robinow. Nevertheless, until now, it is still hard to know whether the treatment can completely heal the patient or not.

  • Counseling
  • Development hormone therapy
  • Teeth therapy
  • Surgery to correct patient’s physical disorder

There may be different treatment for each patient because it is depended on the symptoms. Taking surgery may be the best one to remedy the patient’s physical body. Other than the medical ones, the patient also needs counseling to overcome psychological symptoms of their physical disorder and then to help them reintegrate with the society.

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Is There Any Other Way to Prevent Robinow Syndrome?

The genetic disorder, such as Robinow Syndrome, is actually hard to be prevented because it is hard to know the factors causing genetic mutation and it also needs genetic special examination for the parents-to-be with Robinow Syndrome history in their family. The genetic examination, such as Amniocentesis, is very important because the couple has higher risk to have child with Robinow Syndrome. To avoid the severe disorders, it is required to have counselling with the doctor about the possibility of this syndrome. If possible, it is recommended to take early treatments to prevent the abnormal fetus’ development.

The Robinow Syndrome in newborn baby with recessive type has high risk of early death for the children. Whereas, for the dominant type of the syndrome, the children may survive and live normally.

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