Overview
Patau syndrome describes a set of features seen due to an extra copy of chromosome 13 (trisomy 13). It results in severe physical and mental disabilities and 90% of affected patients do not survive to 1 year.
Epidemiology
- Patau syndrome is the third most common autosomal trisomy after trisomy 21 (Down’s syndrome) and trisomy 18 (Edwards syndrome)
- Patau syndrome can affect up to 1 in 5000 births
Presentation
- Microcephaly
- Microphthalmia
- Cleft lip/cleft palate
- Polydactyly
- Rocker bottom feet – convex and rounded soles (curve outwards rather than inwards)
