page_title: Patau syndrome
section_title: Signs and symptoms
hierarchical_section_title: Patau syndrome / Signs and symptoms
context_page_description: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
  This can occur either because each cell contains a full extra copy of chromosome 13, or because each cell contains an extra partial copy of the chromosome or because there are two different lines of cells - one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome- mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis.
  Like all nondisjunction conditions, the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.
context_section_description: Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:
  Nervous system
  Intellectual disability and motor disorder
  Microcephaly
  Holoprosencephaly (failure of the forebrain to divide properly).
  Structural eye defects, including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
  Meningomyelocele (a spinal defect)
  Musculoskeletal and cutaneous
  Polydactyly (extra digits)
  Cyclopia
  Proboscis
  Congenital trigger digits
  Low-set ears
  Prominent heel
  Deformed feet known as rocker-bottom feet
  Omphalocele (abdominal defect)
  Abnormal palm pattern
  Overlapping of fingers over thumb
  Cutis aplasia (missing portion of the skin/hair)
  Cleft palate
  Urogenital
  Abnormal genitalia
  Kidney defects
  Other
  Heart defects (ventricular septal defect) (Patent Ductus Arteriosus)
  Dextrocardia
  Single umbilical artery
caption: Chromosome 13, the affected chromosome in this disease.
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