What is Patau Syndrome?

Description of the disease

Patau syndrome, also known as trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13. This rare condition is accompanied by various physical and mental impairments, making it severe and often fatal.

Classification

• Trisomy 13
• Mosaicism
• Translocation

Symptoms

• Mental retardation
• Facial and skull anomalies
• Heart defects
• Eye damage

Causes

Patau syndrome is caused by the presence of an extra copy of chromosome 13, which may result from genetic mutations or hereditary factors.

Diagnosis

Diagnosis of Patau syndrome involves medical examination, genetic testing, and newborn screening.

Treatment

Treatment of Patau syndrome aims to alleviate symptoms and provide comprehensive care for the patient. Surgical intervention may be necessary to correct heart defects or other complications.

Prevention

Since Patau syndrome is caused by genetic mutations, prevention involves genetic counseling for parents and risk assessment for hereditary diseases.

Physician

Diagnosis and treatment of Patau syndrome require a geneticist or other specialist in genetic disorders.