Understanding, Diagnosing, and Using Genetic Testing for Robinow Syndrome

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Robinow syndrome is a rare genetic disorder that affects the development of multiple parts of the body. This condition is characterized by short stature, distinctive facial features, and abnormalities in the skeletal system, including the hands and feet. In particular, autosomal recessive Robinow syndrome with aplasia/hypoplasia of phalanges and metacarpals/metatarsals is a specific form of the disorder that involves underdeveloped or absent finger and toe bones. In this article, we will explore the importance of understanding, diagnosing, and using genetic testing for this specific form of Robinow syndrome.

Understanding Robinow Syndrome

Robinow syndrome is a congenital disorder, meaning it is present from birth. The condition is caused by mutations in specific genes, resulting in abnormal development of various body systems. The severity of symptoms can vary widely among affected individuals, but common features include:

• Short stature
• Distinctive facial features, such as a broad forehead, widely spaced eyes, and a short nose with an upturned tip
• Abnormalities in the skeletal system, including the spine, ribs, and limbs
• Underdeveloped or absent finger and toe bones (aplasia/hypoplasia of phalanges and metacarpals/metatarsals)

Autosomal recessive Robinow syndrome with aplasia/hypoplasia of phalanges and metacarpals/metatarsals is caused by mutations in the ROR2 gene. This gene provides instructions for making a protein that is involved in the development of various body systems, including the skeletal system. Mutations in the ROR2 gene disrupt the normal development of these systems, leading to the characteristic features of Robinow syndrome.

Diagnosing Robinow Syndrome

Diagnosing Robinow syndrome can be challenging due to the rarity of the condition and the variability of symptoms among affected individuals. However, a combination of physical examination, medical history, and imaging studies can help to identify the characteristic features of the disorder. In some cases, a diagnosis may be suspected based on the presence of specific facial features and skeletal abnormalities, particularly those involving the hands and feet.

Genetic testing can provide a definitive diagnosis of Robinow syndrome by identifying the presence of a mutation in the ROR2 gene. This testing can be particularly helpful for individuals with atypical or mild symptoms, as well as for confirming a diagnosis in individuals with a family history of the disorder.

Using Genetic Testing for Robinow Syndrome

Confirming a Diagnosis

Genetic testing can be a valuable tool for confirming a diagnosis of Robinow syndrome in individuals with characteristic symptoms or a family history of the disorder. By identifying the presence of a mutation in the ROR2 gene, healthcare providers can provide a definitive diagnosis and appropriate management recommendations for affected individuals.

Prenatal Testing

For families with a known history of Robinow syndrome, prenatal testing can be an important option for assessing the risk of the disorder in a developing fetus. Genetic testing can be performed on fetal cells obtained through procedures such as chorionic villus sampling (CVS) or amniocentesis. By identifying the presence or absence of an ROR2 gene mutation, healthcare providers can provide families with information about the risk of Robinow syndrome in the pregnancy and support informed decision-making.

Carrier Testing

As autosomal recessive Robinow syndrome is inherited in an autosomal recessive manner, both parents must carry a mutated copy of the ROR2 gene for their child to be affected by the disorder. Carrier testing can be performed on individuals with a family history of Robinow syndrome or those at risk for being carriers due to their ethnic background. By identifying the presence of an ROR2 gene mutation, carrier testing can provide valuable information for family planning and reproductive decision-making.

Genetic Counseling

Genetic counseling is an essential component of genetic testing for Robinow syndrome. A genetic counselor can help individuals and families understand the implications of genetic testing, interpret test results, and provide guidance on management and reproductive options. By providing personalized support and information, genetic counselors can help families navigate the complex process of genetic testing for Robinow syndrome.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)