Patau Syndrome

Patau syndrome is a rare genetic disorder that affects the development of the child, and it’s a fatal condition in most of the cases.

Patau syndrome

Patau syndrome is a rare genetic disease that affects the physical growth of the child along with the development of internal organs like the heart and brain.

Patau syndrome can affect anyone, and most of the cases pass away before they turn one year old.

Causes of Patau syndrome

• Patau syndrome occurs when an extra copy of chromosome 13 gets linked to a pair of chromosomes; therefore, the complete number of chromosomes becomes 47 instead of 46.

Symptoms of Patau syndrome

Trisomy 13 causes various symptoms in the physical appearance and the internal organs:

• Cleft lip and cleft palate.
• Extra fingers or toes.
• Abnormal growth of the arms and legs.
• Low muscle tone.
• Small head
• The jaw is lower than normal.
• The ears form low on the head.
• The eyes are tiny, undeveloped, or close to each other.
• Problems in gaining weight.
• Heart failure.
• Underdeveloped lungs.
• Vision and hearing issues.
• Gastrointestinal issues that make eating harder.
• Around 80% of babies with Patau syndrome die within the first year of age, and the rest may face more life-threatening issues after that, like increased risk of cancers and seizures.

Diagnosis of Patau syndrome

• Genetic test.
• Prenatal ultrasound.
• Physical exam after delivery.

Treatment of Patau syndrome

There isn’t a cure for Patau syndrome, and the baby requires long-term treatment to manage the symptoms, which includes:

• Medications.
• Educational support.
• Physical, speech, and behavioral therapy.
• Surgery to fix the physical issues.