Which are the symptoms of Trisomy 13 Syndrome / Patau Syndrome?

Symptoms of Trisomy 13 Syndrome / Patau Syndrome

Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13 in the cells of an individual. This condition leads to various physical and developmental abnormalities, which can vary in severity from person to person. Trisomy 13 Syndrome affects approximately 1 in 10,000 to 1 in 16,000 live births.

Physical Features:

Individuals with Trisomy 13 Syndrome often exhibit distinct physical features, which can include:

• Cleft lip and/or palate


• Small head (microcephaly) with sloping forehead


• Small eyes (microphthalmia) or other eye abnormalities


• Low-set ears


• Extra fingers or toes (polydactyly)


• Clenched hands with overlapping fingers


• Rocker-bottom feet (convex soles)

Organ Abnormalities:

Trisomy 13 Syndrome can also affect the development of various organs, leading to abnormalities such as:

• Heart defects, including ventricular septal defects (holes in the heart)


• Kidney abnormalities


• Brain malformations


• Spinal cord abnormalities


• Abnormal genitalia

Intellectual and Developmental Disabilities:

Individuals with Trisomy 13 Syndrome typically experience intellectual and developmental disabilities, which can range from mild to severe. These may include:

• Delayed or limited physical and motor development


• Intellectual disability


• Seizures


• Feeding difficulties


• Hearing loss


• Vision problems

Other Health Issues:

Trisomy 13 Syndrome is associated with a range of other health issues, including:

• Respiratory problems


• Recurrent infections


• Gastrointestinal abnormalities


• Hormonal imbalances


• Increased risk of certain cancers

Life Expectancy:

Trisomy 13 Syndrome is a serious condition, and the majority of affected individuals have a significantly reduced life expectancy. Many infants with this syndrome do not survive beyond the first year of life. However, there have been rare cases of individuals with Trisomy 13 Syndrome living into their teenage years and even adulthood, although they often require extensive medical care and support.

Treatment and Support:

There is no cure for Trisomy 13 Syndrome, and treatment primarily focuses on managing the symptoms and providing supportive care. This may involve a multidisciplinary approach, including medical interventions, therapies (such as physical, occupational, and speech therapy), and educational support tailored to the individual's specific needs.

It is important for individuals with Trisomy 13 Syndrome and their families to work closely with healthcare professionals to address the various challenges associated with the condition and to ensure the best possible quality of life.