Decoding MORM Syndrome: A Guide to Understanding, Diagnosing, and Utilizing Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding MORM Syndrome

MORM syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly (small head size), and distinct facial features. This condition is a type of ciliopathy, which refers to a group of disorders that affect the function of cilia, the tiny hair-like structures that cover the surface of cells. Cilia play a crucial role in cell movement, sensory perception, and signaling pathways, and their dysfunction can lead to a wide range of health problems.

Recent research has identified novel genetic mutations associated with ciliopathy disorders, including MORM syndrome, in families from Pakistan. A study published in the Annals of Human Genetics found a homozygous frameshift mutation in the BBS5 gene and a nonsense mutation in the INPP5E gene as causes of ciliopathy disorders in two Pakistani families. These findings contribute to our understanding of the genetic basis of MORM syndrome and may help in the development of more effective diagnostic and therapeutic strategies.

Diagnosing MORM Syndrome

Diagnosing MORM syndrome can be challenging due to its rarity and overlapping symptoms with other neurodevelopmental disorders. However, advances in genetic testing have made it possible to identify the specific genetic mutations responsible for this condition. Genetic testing involves analyzing a person’s DNA to detect changes in the structure or function of specific genes associated with a particular disorder.

For MORM syndrome, genetic testing can be used to identify mutations in the BBS5 and INPP5E genes. In some cases, additional testing may be necessary to rule out other neurodevelopmental disorders with similar clinical presentations, such as Rett syndrome, Leigh syndrome, or Dravet syndrome. Recent studies have identified novel genetic causes for these conditions, expanding the phenotypical spectrum and improving our ability to accurately diagnose and differentiate between them.

Uses of Genetic Testing in MORM Syndrome

Genetic testing for MORM syndrome can be helpful in several ways:

1. Confirming a diagnosis: Identifying the specific genetic mutations responsible for MORM syndrome can provide a definitive diagnosis, helping to guide appropriate medical care and support for affected individuals and their families.
2. Carrier testing: Genetic testing can be used to determine if a person is a carrier of a MORM syndrome-causing mutation, which may be important for family planning and understanding the risk of having a child with the condition.
3. Prenatal and preimplantation genetic testing: Couples at risk of having a child with MORM syndrome may opt for prenatal genetic testing to determine if their unborn child is affected. Alternatively, preimplantation genetic testing can be performed on embryos created through in vitro fertilization (IVF) to identify those without the disease-causing mutations before implantation.

Looking to the Future

As our understanding of the genetic basis of MORM syndrome and other ciliopathies continues to grow, so too does the potential for improved diagnostic and therapeutic strategies. By identifying novel genetic causes and expanding the phenotypical spectrum of these disorders, researchers are paving the way for more accurate diagnoses, targeted treatments, and ultimately, better outcomes for affected individuals and their families.

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)