Patau Syndrome

Disease database

Patau Syndrome, also known as trisomy 13, is a rare genetic disorder that occurs in approximately 1 in 10,000 to 1 in 16,000 live births. It is caused by the presence of an extra copy of chromosome 13 in the cells of the body. This additional genetic material disrupts the normal development of the baby, leading to a wide range of physical and intellectual disabilities.

Cleft Palate: A Common Feature

One of the most common features of Patau Syndrome is a cleft palate. This occurs when the roof of the mouth does not fully close during fetal development, resulting in a gap or split. A cleft palate can affect a baby’s ability to feed and speak properly, and may require surgical intervention to correct.

Microcephaly: Abnormally Small Head Size

Microcephaly, or abnormally small head size, is another characteristic of Patau Syndrome. This condition is caused by underdevelopment of the brain, leading to intellectual disability and developmental delays. Babies with microcephaly may also have seizures and difficulties with motor skills.

Polydactyly: Extra Fingers or Toes

Polydactyly, the presence of extra fingers or toes, is often seen in individuals with Patau Syndrome. This abnormality can range from a small extra digit to a fully formed finger or toe. Polydactyly may require surgical intervention to remove the extra digit and ensure proper hand or foot function.

Holoprosencephaly: Brain Malformation

Holoprosencephaly is a severe brain malformation that can occur in individuals with Patau Syndrome. It is characterized by the failure of the brain to divide into two hemispheres during fetal development. This condition can result in significant intellectual disability and physical abnormalities, such as facial deformities and organ malformations.

Heart Defects: A Life-Threatening Complication

Heart defects are a common complication of Patau Syndrome and can range from mild to severe. These defects can affect the structure and function of the heart, leading to life-threatening complications. Surgery may be required to repair or manage these heart abnormalities.

Rocker Bottom Feet: Unusual Foot Shape

Rocker bottom feet, characterized by a convex sole and a rounded heel, are often seen in individuals with Patau Syndrome. This unusual foot shape can make it difficult for affected individuals to walk and may require orthopedic interventions, such as braces or corrective surgery.

Small Eyes: A Distinctive Facial Feature

Small eyes, also known as microphthalmia, are a distinctive facial feature of Patau Syndrome. This condition is characterized by abnormally small or underdeveloped eyes. It can result in vision impairment or blindness and may require visual aids or interventions to support visual function.

Intellectual Disability: Challenges in Cognitive Development

Intellectual disability is a common feature of Patau Syndrome. It refers to significant limitations in intellectual functioning and adaptive behavior. Individuals with Patau Syndrome may have difficulties with learning, problem-solving, and independent living skills. Early intervention and specialized educational support can help maximize their potential.

Treatment and Management

While there is no cure for Patau Syndrome, treatment and management focus on addressing the individual’s specific needs and improving their quality of life. This may involve a multidisciplinary approach, including medical interventions, therapies, and support services.

Medical Interventions

  • Surgical correction of cleft palate, heart defects, and other physical abnormalities
  • Medications to manage seizures, heart conditions, and other associated medical issues
  • Regular monitoring and management of health conditions


  • Physical therapy to improve motor skills and mobility
  • Occupational therapy to enhance daily living skills and independence
  • Speech therapy to address communication and feeding difficulties
  • Early intervention programs to support developmental milestones

Support Services

  • Special education programs tailored to the individual’s needs
  • Assistive devices and technologies to support communication and mobility
  • Psychological support for the individual and their family
  • Access to community resources and support groups

It is important for individuals with Patau Syndrome to receive comprehensive and ongoing care from a team of healthcare professionals. Regular check-ups, early intervention, and a supportive environment can greatly improve their quality of life and help them reach their full potential.

In conclusion, Patau Syndrome is a complex genetic disorder that affects multiple aspects of an individual’s development. The presence of cleft palate, microcephaly, polydactyly, holoprosencephaly, heart defects, rocker bottom feet, small eyes, and intellectual disability are key features of this syndrome. While there is no cure, early intervention, medical interventions, therapies, and support services can greatly improve the quality of life for individuals with Patau Syndrome and help them overcome challenges associated with the condition.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
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