Robinow Syndrome

What is Robinow syndrome?

Robinow syndrome is a very rare disorder that affects development of the skeleton and other body parts. It can cause bone abnormalities, such as short arms, legs, fingers and toes. It also can cause a curved spine, missing ribs, abnormal facial features genital abnormalities and developmental delays.

The syndrome is also called:

• 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 2 types of Robinow syndrome?

There are two kinds of Robinow syndrome: autosomal recessive and autosomal dominant.

They are different based on:

• Genetic mutation that causes the syndrome.
• How a person inherits the syndrome.
• Signs and symptoms.
• Severity.

How common is Robinow syndrome?

Both forms of Robinow syndrome are extremely rare. In medical literature, experts have reported fewer than 200 cases of the recessively inherited form and only around 50 families with the autosomal dominant form.

What causes Robinow syndrome?

A genetic mutation causes Robinow syndrome.

In autosomal recessive Robinow syndrome, the mutation occurs in the ROR2 gene. Scientists believe the gene is responsible for making a protein involved in the formation of the skeleton, heart and genitals.

Autosomal dominant Robinow syndrome may involve mutation of several genes, including FZD2, WNT5A, DVL1 and DVL3. These genes are responsible for making proteins involved in early development. Their role is not completely understood.

Sometimes Robinow syndrome occurs without any evidence of a genetic mutation. Scientists don’t understand the cause in such cases.

How is Robinow syndrome inherited?

There are two ways a person can inherit Robinow syndrome:

• Recessive disorder: Occurs when a person inherits two copies of the abnormal gene, one from each parent. Parents are only a carrier and therefore have no symptoms.
• Dominant disorder: Occurs when a person inherits an abnormal gene from one parent only or when a gene mutation happens randomly.

A person can be a carrier of the genetic mutation without knowing it and without having the disorder. If two carriers have a child together, that child has a 25% chance of developing autosomal recessive Robinow syndrome.

Rarely, the disorder happens because of a new mutation that was not passed down. The mutation can happen spontaneously (randomly) during fetal development. Scientists don’t understand what causes spontaneous mutations.

What are the symptoms of Robinow syndrome?

Robinow syndrome symptoms vary widely, depending on the type of disorder and how severe it is. Autosomal recessive Robinow syndrome is more severe than the autosomal dominant form.

People with Robinow syndrome often have abnormal facial features. It’s sometimes called “fetal facies” because the face looks similar to the face of a developing fetus. Facial abnormalities might include:

• Broad or bulging forehead.
• Ears that are unusually positioned, such as low on the head or slightly rotated.
• Large head (macrocephaly).
• Long, deep groove in the center of the upper lip.
• Prominent, widely spaced eyes.
• Short, upturned nose.
• Small chin or jaw.
• Triangle-shaped mouth.
• Wide or sunken bridge of the nose.

Skeletal signs and symptoms may include:

• Curved spine (scoliosis).
• Delayed growth and short stature.
• Dental problems, such as crowded teeth, overgrown gums or cleft palate.
• Fused or missing ribs.
• Short bones in the arms and legs.
• Short fingers and toes (brachydactyly).

Other symptoms may include:

• Developmental delays, although most people with Robinow syndrome do not have intellectual disabilities later in life.
• Problems with the kidneys or heart.
• Underdeveloped genitalia, or genitals that are not obviously male or female.

What is osteosclerotic Robinow syndrome?

A minority of people with autosomal dominant Robinow syndrome (due to a mutation in DVL1) may also have bones that are harder than normal. Healthcare providers call this osteosclerotic Robinow syndrome.

How is Robinow syndrome diagnosed?

Robinow syndrome is usually diagnosed based on physical signs. To confirm the diagnosis, healthcare providers use molecular genetic testing for a gene mutation. This involves a laboratory test on a sample of:

• Blood.
• Saliva.
• Cheek swab cells.
• Skin.

If Robinow syndrome runs in a family, a healthcare provider may recommend genetic testing on developing fetus. They might test a sample of the placenta using chorionic villus sampling. Or, they may test a sample of amniotic fluid using genetic amniocentesis.

How is Robinow syndrome treated?

Robinow syndrome treatment depends on the individual’s symptoms. Care often involves a team of specialists, such as:

• Cardiologist (heart).
• Dentist, orthodontist or oral surgeon (teeth and jaw).
• Endocrinologist (hormones related to genital development).
• Pediatrician.
• Physical therapist (to improve movement).
• Orthopedic surgeon (bones and joints).

Treatment may include:

• Braces or casts to support affected bones.
• Braces and other oral devices to correct dental problems.
• Hormone therapy to improve growth or genital development.
• Special exercises to strengthen the body and improve function.
• Surgery to correct skeletal or genital abnormalities.

A healthcare provider also may recommend genetic counseling for people with Robinow syndrome and their families.

How can I prevent Robinow syndrome?

Unless couples undergo preimplantation genetic testing, there’s no way to prevent the mutation that leads to Robinow syndrome. If you or someone in your family has the condition, talk to a healthcare provider or genetic counselor. They can help you understand the chances of passing on the disorder.

What’s the outlook with Robinow syndrome?

The prognosis with Robinow syndrome varies, depending on the symptoms and how severe they are. Rare heart and kidney problems can shorten lifespan.

What else should I ask my doctor about Robinow syndrome?

If your child has Robinow syndrome, consider asking your healthcare providers the following questions:

• What form of Robinow syndrome does my child have?
• Should we consider surgery to correct any skeletal or genital abnormalities?
• Will my child have developmental delays?
• Are the heart and kidneys involved?
• What specialists should we see and how often?
• Are there any signs or symptoms that I should call you about?
• Will this disorder shorten my child’s lifespan?
• Are there any support groups that can help us cope with this condition?
• Do you recommend genetic counseling?
• Should other people in our family get genetic testing?

A note from Cleveland Clinic

Robinow syndrome is a rare genetic disorder that can cause bone abnormalities, unusual facial features, genital abnormalities and other issues. Specialists may be able to help correct skeletal and genital abnormalities and help your child function better.