What Is Robinow Syndrome?

Introduction

Robinow syndrome, also known as foetal face syndrome, was discovered in 1969 by a group of researchers led by Meinhard Robinow, from whom the condition gets its name. Robinow syndrome is an extremely rare condition characterised by short stature and abnormalities of the face, head, limbs, and genitalia. The condition results from the inheritance of a mutated gene, mostly the ROR2 gene but sometimes the WNT5A gene. The condition can be detected before birth at the nineteenth week of pregnancy through an ultrasound or can be diagnosed after birth through physical examination and imaging techniques. Not all patients with Robinow syndrome are impacted identically, and, therefore, management and treatment can vary depending on how a patient’s specific signs and symptoms.^{1 2 3 4}

Cause of robinow syndrome

Robinow syndrome is caused by the inheritance of a mutated gene. In most casesthe mutation affects a gene called ROR2, while other times it concerns WNT5A. This inheritance can occur through an autosomal recessive pattern or an autosomal dominant pattern, with the former causing a more severe form of the disease. An autosomal recessive inheritance pattern involves someone inheriting a mutated gene as both parents are carriers of the mutated gene, though they do not have the disease themselves. An autosomal dominant inheritance pattern involves someone inheriting mutated genes due to them having a parent with the related disease.^{1 2 3 4}

Signs and symptoms of robinow syndrome

Signs and symptoms of Robinow syndrome can vary across patients, and they impact a range of bodily systems, typically including the face, spine, limbs, and genitalia. Defects of the kidney and heart can occur, too. Some patients, about one in ten, will have developmental delays in their intelligence.^{1 4}

Face

• Flat nose
• Wide forehead
• Far apart eyes
• The upper lip has an inverted ‘V’ shape
• Thick gums
• Irregular teeth
• Limited movement of the tongue
• Bulging eyeballs
• Low ears
• Large head

Spine

• Short height
• Curving of the spine
• Fusion of the vertebrae and ribs

Limbs

• Short arms and legs
• Short fingers and toes
• Absence of fingers
• Fused fingers
• Displacement of the thumb
• Underdeveloped nails

Genitalia

• Reduced size of the clitoris size
• Folds around the vagina (labia minora) are small
• Micropenis with a normal-sized scrotum and testes

Diagnosis of robinow syndrome

The diagnosis of Robinow syndrome can be pre or post-natal, and it can be made through a physical examination, imaging techniques, and genetic testing.²

Physical examination

Since signs and symptoms of Robinow syndrome can typically be observed with the naked eye, a simple physical examination can allow for the condition to be diagnosed. Physical examinations on newborns are done routinely, meaning Robinow syndrome can be diagnosed shortly after birth.^{2 6}

Imaging techniques

Robinow syndrome can be detected before birth. Typically, the condition can be diagnosed during the nineteenth week of pregnancy using an ultrasound to observe the physical abnormalities of the baby.⁴ 

During this exam, patients are asked to lie on their back and reveal their abdomen. The gel is then spread over the stomach to allow the ultrasound probe to make proper contact with the area. Therefore, the ultrasound probe is passed over the abdomen allowing a picture of the baby to appear on a screen, in order to show any physical abnormality of the baby.⁷ 

Babies suspected to have Robinow syndrome can also undergo an ultrasound specifically to detect any kidney’ abnormality, since these are the most common ones.¹ 

Typically, an ultrasound will take 20 to 30 minutes to complete.⁷

Echocardiograms are a type of ultrasound used specifically to view the heart.⁸ Since patients with Robinow syndrome are more susceptible to congenital heart disease, echocardiograms can be useful in confirming a diagnosis of this Condition.¹ 

There are different forms of echocardiograms, each involving a different procedure; though, the transthoracic echocardiogram is the most common type. 

Transthoracic echocardiograms are similar to standard ultrasounds in that they involve a gel and an ultrasound probe, which are both placed onto the chest, as opposed to the stomach. The ultrasound probe is then moved across the chest to generate images of the heart, in this case.⁸

X-rays can also aid a diagnosis of Robinow syndrome, showing physical abnormalities that cannot be seen at the naked eye such as fusion of the vertebrae and ribs or fused fingers’ bones.² 

X-rays are quick and painless procedure which provide images of inside the body through an x-ray machine passing x-rays into the body.⁹

Genetic testing

Genetic testing usually helps to confirm the diagnosis of this condition by identifying the gene causing the Syndrome. 

Genetic tests usually involve a sample of blood or saliva being collected from a patient and, consequently, their laboratory analysis. 

Genetic testing can also be performed and allow for a diagnosis of Robinow syndrome to be confirmed before birth. Moreover, they can determine the risk of a non-pregnant person having a baby affected with Robinow syndrome.^{1 10}

Management and treatment of robinow syndrome

Management and treatment of Robinow syndrome can vary depending on a patient’s specific signs and symptoms. Since a range of bodily systems can be affected, a variety of medical specialists may be involved in the care for patients with the Condition. These medical specialists may include orthopaedic surgeons who can treat abnormalities of the limbs and skeleton, dentists who can treat irregular teeth, cardiologists who manage congenital heart disease, and nephrologists who manage problems with the kidney.^{1 11 12}

FAQs

How common is robinow syndrome?

Robinow syndrome is extremely rare, and cases are reported infrequently. The condition is estimated to occur in 1 in 500,000 babies.¹ Clusters of cases have been reported in Czechoslovakia, Oman, and Turkey, though the condition can affect anyone in any country. Both those assigned females and those assigned males are affected equally.²

Is robinow syndrome a genetic condition?

Robinow syndrome is a genetic condition. The condition results from the inheritance of a mutated gene, mostly the ROR2 gene but in some cases the WNT5A gene.^{2 3}

Can robinow syndrome be detected before birth?

Robinow syndrome can be detected before birth. Typically, the condition can be diagnosed during the nineteenth week of pregnancy using ultrasound. Furthermore, genetic testing can be done to identify the mutated gene causing Robinow syndrome before birth.^{1 4}

Is there a cure for robinow syndrome?

There is no cure for Robinow syndrome. However, some physical abnormalities caused by the condition can be alleviated or resolved with various management and treatment options.¹

How does robinow syndrome affect a person’s growth and development?

Robinow syndrome can affect a person’s growth and development, typically with a short stature and shortened limbs. Furthermore, some patients experience developmental delays in their intelligence.^{1 4}

Can individuals with robinow syndrome live a normal lifespan?

Though the life expectancy for those with Robinow syndrome varies across patients, those affected with the condition can live a normal lifespan.¹³

Can genetic studies be done to determine whether someone is a carrier of the gene for robinow syndrome?

Genetic studies can be performed to determine whether someone is a carrier of the gene for Robinow syndrome.^{1 10}

Summary

Robinow syndrome is also known as foetal face syndrome. It is an extremely rare genetic condition resulting from the inheritance of a mutated gene. Robinow syndrome is characterised by short stature and abnormalities of the face, head, limbs, and genitalia. The signs and symptoms of Robinow syndrome occur in the newborn but can be detected prior to birth with an ultrasound. If not diagnosed before birth, physical examination and imaging techniques can identify the condition in the newborn. Genetic testing can be helpful in determining the risk of a parent having a child with Robinow syndrome. 

Not all patients with Robinow syndrome will present with the same signs and symptoms and, therefore, management and treatment will vary depending on a patient’s specific presentation.