Trisomy 13 (also called Patau syndrome)


Condition Description

Trisomy 13 is a severe syndrome with multiple malformations due to additional genetic material on the 13th chromosome. The cause is unknown. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Babies are small at birth and have characteristic facial appearance.


Trisomy 13 occurs in 1 of 5000 births and the incidence increases with increased maternal age. The risk of recurrence in future pregnancies is 1%.

Common Associated Conditions

Babies with trisomy 13 will have a characteristic group of problems that may include the following: microcephaly (small head size), cleft lip (facial defect), omphalocele (abdominal defect), spina bifida (spine defect), microphthalmia (small eyes), anophthalmia (absent eyes), scalp defects, polydactyly (extra fingers and toes) and cryptorchidism (undescended testicles).

Short-term Treatment and Outcomes

Babies will be given comfort care, and 80% will not survive past the first month of life. Most will not live past the first week, regardless of medical intervention. Despite good caloric intake, many babies with chromosomal defects will show slow growth. Parents will be offered genetic testing and counseling.

A very few children are less severely affected and will overcome many of the difficulties; those babies will provided with regular child care visits for immunizations and anticipatory guidance, with screening at frequent intervals for vision and hearing difficulties, scoliosis, developmental delays and symptoms of other conditions that can be treated.

Long-term Treatment and Outcomes

The 5% of children who do survive past the first year will all exhibit developmental and growth delays. Families will need support and resources to provide the needed care for their child and may need respite care to be able to take care of themselves and give needed attention to siblings. Early intervention programs and special education will be very important to the relatively small number of children with trisomy 13 who survive the difficult early months.

Common Complications

The list of possible complications is very great because so many body systems are involved with the trisomy 13 condition. Infection and difficulty feeding will be big issues in caring for these babies.

Implications for Children's Development

The birth of a severely affected child is very difficult and families will find support from other families who have experienced similar circumstances. Support groups can be found on the internet as well as in many communities. Children who do survive may make some developmental gains such as rolling over, recognizing their parents and expressing pleasure or pain in some way. A few may progress to be able to enter school with the help of early intervention and special education adaptations.

Decision-making for children with chromosomal defects is very difficult and parents need information and support. Hospice or palliative care staff can be very helpful to provide comfort and compassionate care. Parental education and support are essential, and local, regional and national organizations are very helpful. Listed below is an organization that provides practical information and support for families with a child with trisomy 13.