Which are the symptoms of Levy-Yeboa Syndrome?

Levy-Yeboa Syndrome (LYS), also known as Cornelia de Lange Syndrome 11 (CDLS11), is a rare genetic disorder that affects multiple systems in the body. It is characterized by a wide range of physical, cognitive, and developmental abnormalities. LYS is caused by mutations in the AFF4 gene, which plays a crucial role in the regulation of gene expression during development.

Physical Features: Individuals with Levy-Yeboa Syndrome often exhibit distinctive facial characteristics. These may include arched eyebrows, long eyelashes, a short upturned nose, a thin upper lip, and a small chin. They may also have low-set ears, hirsutism (excessive hair growth), and a small head circumference. Additionally, individuals with LYS may have limb abnormalities such as small hands and feet, missing fingers or toes, or joint contractures.

Growth and Development: Delayed growth and development are common in individuals with LYS. They may have poor muscle tone (hypotonia) during infancy, leading to delays in sitting, crawling, and walking. Intellectual disability is also a characteristic feature, with varying degrees of severity. Language and speech delays are often observed, and individuals may have difficulty with expressive and receptive communication skills.

Feeding Difficulties: Infants with Levy-Yeboa Syndrome may experience difficulties with feeding, including poor sucking reflex, swallowing problems, and gastroesophageal reflux. These challenges can contribute to poor weight gain and failure to thrive in some cases.

Behavioral and Psychological: Individuals with LYS may exhibit behavioral issues such as hyperactivity, self-injurious behaviors, and repetitive movements. They may also have difficulties with social interactions and exhibit autistic-like behaviors. Additionally, anxiety and attention deficit hyperactivity disorder (ADHD) are commonly seen in individuals with LYS.

Organ System Abnormalities: Levy-Yeboa Syndrome can affect various organ systems in the body. Congenital heart defects, such as atrial septal defects or ventricular septal defects, may be present. Gastrointestinal abnormalities, including gastroesophageal reflux disease (GERD), intestinal malrotation, and Hirschsprung disease, have also been reported. Genitourinary anomalies, such as cryptorchidism (undescended testicles) in males or structural abnormalities in the female reproductive system, may occur.

Hearing and Vision: Hearing loss, both conductive and sensorineural, can occur in individuals with LYS. Vision problems, such as refractive errors, strabismus (crossed eyes), and ptosis (drooping eyelids), may also be present.

Other Features: Individuals with Levy-Yeboa Syndrome may have additional features, including seizures, sleep disturbances, dental abnormalities, and skin anomalies such as excessive freckling or pigmentation. They may also be prone to respiratory infections and have an increased risk of developing certain cancers.

It is important to note that the severity and combination of symptoms can vary widely among individuals with Levy-Yeboa Syndrome. Early diagnosis and intervention, including multidisciplinary care involving medical specialists, therapists, and educators, can greatly improve the quality of life for individuals with LYS and support their overall development and well-being.