Introduction
Robinow syndrome is a rare disorder due to genetic factors. It leads to abnormalities of bone, facial features, genital abnormalities, and other problems. This condition can be inherited in two ways- autosomal recessive form and autosomal dominant, of which autosomal recessive is usually more severe. Its symptoms include short stature, joint and bone deformities, heart problems, prominent eyes, etc.
What Is Robinow Syndrome?
Robinow syndrome is a type of disorder that affects the growth of the skeleton and other bones of the body. It can lead to short arms, legs, fingers, and toes. The curvature of the spine, missing ribs, abnormal facial features, developmental delays, and some genital abnormalities are seen. This syndrome is also known as
-
Acral dysostosis with facial and genital abnormalities.
-
Fetal face syndrome.
-
Mesomelic dwarfism-small genitalia syndrome.
-
Robinow-dwarfism.
-
Robinow-Silverman syndrome or Robinow-Silverman Smith syndrome.
What Are the Types of Robinow Syndrome?
Robinow syndrome is divided into different ways based on
-
The genetic mutation that causes the syndrome.
-
The way a person inherits the syndrome.
-
Signs and symptoms of the disease.
-
The severity of the disease.
-
The type of disease.
The Robinow syndrome can be classified into two categories-
Autosomal Recessive Robinow Syndrome:
It is usually the more severe type of syndrome. This is caused when two copies of abnormal genes are received, one from each parent. Parents do not have any symptoms since they are the only carrier of the gene.
The characteristic feature of autosomal recessive Robinow syndrome is that the long bones of the arms and legs get shortened, fingers and toes become short, the spinal bones turn into wedge-shaped, which distorts the spinal curvature (kyphoscoliosis), “fetal facies” in which the face resembles that of the fetus.
Autosomal Dominant Robinow Syndrome:
This is a less severe type. It occurs when a person only receives an abnormal gene from a single parent or when the gene mutation occurs randomly. In autosomal dominant Robinow syndrome, the features are similar to that of recessive one but in a milder form. The abnormalities of the spine and rib are usually not present. In a few cases, the density of bone mineral gets increased.
Both forms of these syndromes are sporadic.
One more type of Robinow syndrome is found less frequently in some people, known as:
Osteosclerotis Robinow Syndrome: Osteosclerotic Robinow syndrome occurs when a minority of people with autosomal dominant Robinow syndrome (caused due to mutation in DVL1) may have their bones which become harder than normal.
What Causes Robinow Syndrome?
The main cause of Robinow syndrome is a genetic mutation.
-
Mutation in the ROR2 gene causes autosomal recessive Robinow syndrome. It is believed that this gene is the one that helps in the production of a protein that helps in the formation of the skeleton, heart, and genitals.
-
Mutations in other genes such as DVL1, DVL2, etc cause autosomal dominant Robinow syndrome. These genes are the ones that help in the production of a protein which helps in early development.
What Are the Symptoms of Robinow Syndrome?
The symptoms of Robinow syndrome can vary largely depending upon the type and severity of the disorder. People having Robinow syndrome usually have unusual facial features. Sometimes it is also known as “fetal facies” since the face resembles a developing fetus's. The unusual facial features include-
-
The forehead becomes broad or bulging.
-
Larger head present (macrocephaly).
-
A long deep groove is present at the center of the upper lip.
-
The eyes appear prominent and widely spaced.
-
The nose is short and upturned.
-
The chin or jaw appears to be short.
-
The mouth appears triangular-shaped.
-
The bridge of the nose is wide or shrunken.
-
Ears are unusually positioned, such as low on the head or slightly rotated.
The skeletal signs and symptoms include-
-
The curvature of the spine (scoliosis).
-
Short stature and growth become delayed.
-
Dental issues include crowding teeth, overgrowth of the gums, or cleft palate.
-
The ribs become fused or missing.
-
The bones of the legs and arms become short.
-
The fingers and toes become short (brachydactyly).
Some of the other symptoms that may be present are-
-
Kidney or heart diseases.
-
Poorly developed genitalia or genitals that are not correctly male or female.
How Is Robinow Syndrome Diagnosed?
Robinow syndrome can be diagnosed physically by doctors. To confirm this, some other tests may also be performed, such as molecular genetic testing in case of gene mutation. This is done by withdrawing a sample from the.
-
Blood.
-
Saliva.
-
Skin.
-
Cheek-swab cells.
If the Robinow virus is present in a family, genetic testing is done by withdrawing a sample from the placenta using chorionic villus sampling. Testing of samples from amniotic fluid (a fluid that lines the fetus) can also be done by genetic amniocentesis (a test that diagnoses genetic disorders).
How Is Robinow Syndrome Treated?
Robinow syndrome can be treated as per the person’s symptoms.
-
To support the bones, braces or casts are used.
-
In case of dental anomalies, braces or other dental appliances are recommended.
-
For the betterment of growth or genital development, hormonal therapy is suggested.
-
To strengthen the body and improve certain functions, special exercises are suggested.
-
To correct skeletal or genital deformities, surgery is performed.
Doctors also suggest genetic counseling for people with Robinow syndrome and their families.
Conclusion
This article gives details of Robinow syndrome, its causes, types, signs, symptoms, diagnosis, and treatment. This is a rare kind of genetically inherited syndrome which results in abnormal development of the skeleton development, bone growth, and other parts of the body. A person may become short-statured or have a bulging of the forehead present. This is usually of two types autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome.
It can be diagnosed in the fetal stage using amniotic fluid, or a sample from the placenta can be taken for gene testing. Treatment can be done depending on the underlying symptoms of the disorder, such as braces or casts that can be placed to support bones. In severe cases, surgeries can be performed to correct skeletal or genital deformities.
