Which are the symptoms of Mowat-Wilson syndrome?

Mowat-Wilson syndrome is a rare genetic disorder that affects various systems in the body. It is caused by mutations in the ZEB2 gene, which plays a crucial role in the development of multiple organs and tissues during embryonic development. The syndrome was first described by Dr. David Mowat and Dr. Meredith Wilson in 1998, and since then, more than 300 cases have been reported worldwide.

Physical Features:

Individuals with Mowat-Wilson syndrome often have distinct facial features that can aid in diagnosis. These features may include a broad nasal bridge, deep-set eyes, a prominent pointed chin, a wide mouth with a prominent upper lip, and uplifted earlobes. Additionally, they may have a small head size (microcephaly), a long and narrow face, and a high forehead.

Intellectual and Developmental Disabilities:

Most individuals with Mowat-Wilson syndrome have moderate to severe intellectual disability. They may experience delays in reaching developmental milestones, such as sitting, crawling, and walking. Language and speech development may also be significantly delayed, and many individuals have limited speech abilities or are nonverbal. However, they often have good receptive language skills, meaning they can understand more than they can express.

Neurological and Behavioral Issues:

Seizures are common in individuals with Mowat-Wilson syndrome, with about half of the affected individuals experiencing them at some point in their lives. These seizures can vary in type and severity. Additionally, individuals may exhibit hyperactivity, impulsivity, and attention deficit hyperactivity disorder (ADHD)-like symptoms. Some individuals may also have autism spectrum disorder (ASD) or exhibit autistic behaviors, such as repetitive movements and difficulties with social interactions.

Cardiac and Gastrointestinal Abnormalities:

Many individuals with Mowat-Wilson syndrome have congenital heart defects, which can range from mild to severe. These defects may include abnormalities in the structure or function of the heart, such as ventricular septal defects (VSDs), atrial septal defects (ASDs), or tetralogy of Fallot. Gastrointestinal issues are also common and can include Hirschsprung disease, which affects the large intestine, leading to difficulties with bowel movements.

Genitourinary and Kidney Abnormalities:

Some individuals with Mowat-Wilson syndrome may have genitourinary abnormalities, such as hypospadias in males (a condition where the opening of the urethra is on the underside of the penis) or structural abnormalities in the kidneys. These kidney abnormalities can range from mild to severe and may affect the function of the kidneys.

Eye and Hearing Problems:

Individuals with Mowat-Wilson syndrome may have eye abnormalities, including crossed or misaligned eyes (strabismus), small or poorly developed optic nerves (optic hypoplasia), or other vision impairments. Hearing loss is also common, and it can range from mild to severe. Some individuals may require hearing aids or other interventions to assist with hearing.

Other Features:

There are several other features that can be associated with Mowat-Wilson syndrome, although they may not be present in all individuals. These features include growth retardation, feeding difficulties in infancy, structural brain abnormalities, skeletal anomalies (such as abnormalities in the vertebrae or fingers), and a higher susceptibility to infections.

Conclusion:

Mowat-Wilson syndrome is a complex disorder that affects multiple systems in the body. The symptoms and severity can vary widely among affected individuals. Early diagnosis and intervention are crucial to provide appropriate medical care, support, and therapies to individuals with Mowat-Wilson syndrome.