A chromosomal disorder caused by an extra copy of chromosome 13. Severe condition with holoprosencephaly, polydactyly, heart defects, and rocker-bottom feet. Most die before birth or within first weeks of life.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Very poor. 90% die within first year. Median survival 7-10 days. Only 5-10% survive past first year with severe intellectual disability. Major organ defects (heart, brain, kidneys) usually incompatible with long-term survival. Supportive care is primary approach. Surgical interventions rarely undertaken due to poor prognosis. Parental support and palliative care essential. Rare long-term survivors require comprehensive care for severe disabilities. Recurrence risk low (1% or maternal age-related).

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning