Which are the symptoms of De Santis Cacchione Syndrome?

De Santis Cacchione Syndrome is a rare genetic disorder that affects the development and function of various body systems. It is characterized by a range of symptoms that can vary in severity from person to person. While the exact cause of this syndrome is not fully understood, it is believed to be caused by mutations in certain genes.

Physical Symptoms:

• Facial abnormalities: Individuals with De Santis Cacchione Syndrome may have distinct facial features, such as a prominent forehead, wide-set eyes, a small nose, and a thin upper lip.


• Growth and developmental delays: Children with this syndrome may experience delays in reaching developmental milestones, including delayed growth, delayed speech and language development, and motor skill delays.


• Intellectual disability: Many individuals with De Santis Cacchione Syndrome have intellectual disability, ranging from mild to severe.


• Seizures: Epileptic seizures are common in individuals with this syndrome, and they may vary in frequency and severity.


• Hearing loss: Some individuals may experience hearing loss or have other ear abnormalities.


• Heart defects: Certain heart abnormalities, such as ventricular septal defects or atrial septal defects, may be present in some individuals.


• Skeletal abnormalities: Skeletal issues, including scoliosis (curvature of the spine) and joint problems, may be observed in individuals with this syndrome.

Other Symptoms:

• Behavioral and emotional issues: Individuals with De Santis Cacchione Syndrome may exhibit behavioral problems, such as hyperactivity, impulsivity, and aggression. They may also experience emotional difficulties, including anxiety and mood disorders.


• Speech and language difficulties: Communication challenges, such as speech delays, limited vocabulary, and difficulty understanding and expressing language, are common in affected individuals.


• Feeding difficulties: Infants and children with this syndrome may have difficulties with feeding, including problems with sucking, swallowing, and chewing.


• Vision problems: Some individuals may have vision impairments, such as nearsightedness, farsightedness, or strabismus (crossed or misaligned eyes).


• Endocrine abnormalities: Hormonal imbalances, such as growth hormone deficiency or thyroid dysfunction, may be present in some individuals.


• Genitourinary abnormalities: Certain individuals may have abnormalities in the urinary or genital systems, such as kidney malformations or undescended testes.

It is important to note that not all individuals with De Santis Cacchione Syndrome will exhibit all of these symptoms. The severity and combination of symptoms can vary widely. Early diagnosis and intervention are crucial in managing the symptoms and providing appropriate support and care for affected individuals.