Which are the symptoms of 2q37 Microdeletion Syndrome?

2q37 Microdeletion Syndrome is a rare genetic disorder that is characterized by the deletion of a small piece of genetic material on the long arm of chromosome 2. This condition is also known as 2q37 deletion syndrome or brachydactyly-mental retardation syndrome. The symptoms and severity of this syndrome can vary widely among affected individuals.

One of the most prominent features of 2q37 Microdeletion Syndrome is developmental delay. Children with this condition often experience delays in reaching developmental milestones such as sitting, crawling, walking, and talking. Intellectual disability is also common, ranging from mild to severe. Individuals with this syndrome may have learning difficulties, impaired speech and language skills, and cognitive impairments.

Distinct facial features are often observed in individuals with 2q37 Microdeletion Syndrome. These may include a prominent forehead, a broad nasal bridge, a short nose, a wide mouth, and low-set ears. Additionally, some individuals may have a cleft palate or a high-arched palate.

Brachydactyly, which refers to unusually short fingers and toes, is a characteristic feature of this syndrome. The fingers and toes may also be broad and stubby in appearance. Other skeletal abnormalities can occur, such as joint hypermobility, scoliosis, and abnormalities of the vertebrae.

Individuals with 2q37 Microdeletion Syndrome may also exhibit behavioral and psychiatric issues. These can include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), anxiety, and mood disorders. Some individuals may have self-injurious behaviors or exhibit aggressive tendencies.

Heart defects are seen in a significant number of individuals with this syndrome. These can range from mild abnormalities, such as a heart murmur, to more severe structural defects that require surgical intervention.

Hypotonia, or low muscle tone, is commonly observed in individuals with 2q37 Microdeletion Syndrome. This can contribute to delayed motor development and difficulties with coordination and balance.

Other features that may be present in individuals with this syndrome include short stature, feeding difficulties in infancy, genitourinary abnormalities, such as kidney malformations or hypospadias in males, and ocular abnormalities, including strabismus and refractive errors.

It is important to note that the symptoms and severity of 2q37 Microdeletion Syndrome can vary widely among affected individuals. Some individuals may have only a few of the characteristic features, while others may have a more extensive range of symptoms. Genetic counseling and early intervention services are crucial for individuals diagnosed with this syndrome to ensure appropriate management and support.