Patau syndrome, also called trisomy 13, is a congenital (present at birth)
disorder associated with the presence of an extra copy of chromosome 13.
The extra chromosome 13 causes numerous physical and mental abnormalities,
especially heart defects. Patau syndrome
is named for Klaus Patau, who reported the syndrome and its association
with trisomy in 1960.
Children normally inherit 23 chromosomes from each parent, for a total of
46 chromosomes. A typical human being has 46 chromosomes: 22 pairs of
non-sex linked chromosomes and one pair of sex-linked chromosomes that
determine that person's sex. Sometimes a child may end up with more
than 46 chromosomes because of problems with the father's sperm or
the mother's egg or because of mutations that occurred after the
sperm and the egg fused to form the embryo (conception).
Normally, there are two copies of each of the 23 chromosomes: one from
each parent. A condition called trisomy occurs when three, instead of two,
copies of a chromosome are present in a developing human embryo. An extra
copy of a particular chromosome can come either from the egg or sperm or
from mutations that occur after conception.
The most well-known trisomy-related disorder is
(trisomy 21), in which the developing embryo has an extra copy of
chromosome 21. Patau syndrome is trisomy 13, in which the developing
embryo has three copies of chromosome 13.
An extra copy of chromosome 13 is not the only cause of Patau syndrome.
Other changes in chromosome 13, such as mispositioning (translocation),
can also result in the characteristics classified as Patau syndrome. In
these cases, an error occurs that causes a portion of chromosome 13 to be
exchanged for a portion of another chromosome. There is no production of
extra chromosomes, but a portion of each affected chromosome is
"misplaced" (translocated) to another chromosome.
Patau syndrome causes serious physical and mental abnormalities, including
heart defects; incomplete brain development; unusual facial features such
as a sloping forehead, a smaller than average head (microcephaly), small
or missing eyes, low set ears, and
or hare lip; extra fingers and toes (
); abnormal genitalia; spinal defects; seizures; gastrointestinal hernias,
particularly at the navel (omphalocele); and
. Due to the severity of these conditions, fewer than 20 percent of those
affected with Patau syndrome survive beyond infancy.
Patau syndrome occurs in approximately one in 10,000 live births. In many
cases, spontaneous abortion (miscarriage) occurs, which means the fetus
does not survive to term. In other cases, the affected individual is
stillborn. As appears to be the case in all trisomies, the risks of Patau
syndrome seem to increase with the mother's age, particularly if
she is over 30 when pregnant. Male and female children are equally
affected, and the syndrome occurs in all races.
Causes and symptoms
The severity and symptoms of Patau syndrome vary with the type of
chromosomal anomaly, from extremely serious conditions to nearly normal
appearance and functioning. Full trisomy 13, which is present in the
majority of the cases, results in the most severe and numerous internal
and external abnormalities. Commonly, the fore-brain fails to divide into
lobes or hemispheres (holoprosencephaly), and the entire head is unusually
small (microcephaly). The spinal cord may protrude through a defect in the
vertebrae of the spinal column (myelomeningocele). Children who survive
infancy have profound mental retardation and may experience seizures.
Incomplete development of the optic (sight) and olfactory (smell) nerves
often accompany the brain defects described above. The eyes may be
unusually small (microphthalmia) or one eye may be absent (anophthalmia).
The eyes are sometimes set close together (hypotelorism) or even fused
into a single structure. Incomplete development of any structures in the
eye (coloboma) or failure of the retina to develop properly (retinal
dysplasia) produces vision problems. Patau syndrome affected individuals
may be born either partially or totally deaf, and many are subject to
recurring ear infections.
The facial features of many Patau syndrome affected individuals appear
flattened. The ears are generally malformed and lowset. Frequently, a
child with trisomy 13 has a
, a cleft palate, or both. Other physical characteristics include loose
folds of skin at the back of the neck, extra fingers or toes
(polydactyly), permanently flexed (closed) fingers (camptodactyly),
noticeably prominent heels, "rocker-bottom foot," and
missing ribs. Genital malformations are common in individuals affected
with Patau syndrome and include undescended testicles (cryptorchidism), an
abnormally developed scrotum, and ambiguous genitalia in males, or an
abnormally formed uterus (bicornuate uterus) in females.
In nearly all cases, Patau syndrome affected infants have respiratory
difficulties and heart defects, including atrial and ventricular septal
defects (holes between chambers of the heart); malformed ducts that cause
abnormal direction of blood flow (
patent ductus arteriosus
); holes in the valves of the lungs and the heart (pulmonary and aortic
valves); and misplacement of the heart in the right, rather than the left,
side of the chest (dextrocardia). The kidneys and gastrointestinal system
may also be affected with cysts similar to those seen in polycystic kidney
disease. These defects are frequently severe and life-threatening.
Partial trisomy of the distal segment of chromosome 13 results in
generally less severe, but still serious, symptoms and a distinctive
facial appearance including a short upturned nose, a longer than usual
area between the nose and upper lip (philtrum), bushy eyebrows, and tumors
made up of blood capillaries on the forehead (frontal capillary
hemangiomata). Partial trisomy of the proximal segment of chromosome 13 is
much less likely to be fatal and has been associated with a variety of
facial features including a large nose, a short upper lip, and a receding
jaw. Both forms of partial trisomy also result in severe mental
Beyond one month of age, other symptoms that are seen in individuals with
Patau syndrome are: feeding difficulties and
, reflux disease, slow growth rates, curvature of the spine (
), irritability, sensitivity to sunlight, low muscle tone, high blood
pressure, sinus infections, urinary tract infections, and ear and eye
Patau syndrome is detectable during pregnancy through the use of
, and chorionic villus sampling (CVS). At birth, the newborn's
numerous malformations indicate a possible chromosomal abnormality.
Trisomy 13 is confirmed by examining the infant's chromosomal
pattern through karyotyping or another procedure. Karyotyping involves the
separation and isolation of the chromosomes present in cells taken from an
individual. These cells are generally extracted from cells found in a
blood sample. The 22 non-sex linked chromosomes are identified by size,
from largest to smallest, as chromosomes 1 through 22. The sex determining
chromosomes are also identified. Patau syndrome is confirmed by the
presence of three, rather than the normal two, copies of the thirteenth
Some infants born with Patau syndrome have severe and incurable birth
defects. However, children with better prognoses require medical treatment
to correct structural abnormalities and associated complications. For
feeding problems, special formulas, positions, and techniques
Stillborn term infant with Patau's syndrome. The baby has no
eyes, no nose opening, and anelongated bulb hanging from forehead.
(© Ralph C. Eagle, M.D./Photo Researchers, Inc.)
may be used. Tube feeding or the placement of a gastric tube (gastrostomy
may be required. Structural abnormalities such as cleft lip and cleft
palate can be corrected through surgery. Special diets, hearing aids, and
vision aids can be used to mitigate some symptoms of Patau syndrome.
Physical therapy, speech therapy, and other types of developmental therapy
help the child reach his or her potential.
Since the translocation form of Patau syndrome is genetically transmitted,
genetic counseling for the parents should be part of the management of the
Approximately 45 percent of trisomy 13 babies die within their first month
of life; up to 70 percent in the first six months; and over 70 percent by
one year of age. Survival to adulthood is very rare. Only one adult is
known to have survived to age 33.
Most survivors have profound mental and physical disabilities; however,
the capacity for learning in children with Patau syndrome varies from case
to case. Older children may be able to walk with or without a walker. They
may also be able to understand words and phrases, follow simple commands,
use a few words or signs, and recognize and interact with others.
There is no known way to prevent Patau syndrome though it can be diagnosed
prenatally via amniocentesis.
—A procedure performed at 16-18 weeks of pregnancy in which a
needle is inserted through a woman's abdomen into her uterus to
draw out a small sample of the amniotic fluid from around the baby for
analysis. Either the fluid itself or cells from the fluid can be used
for a variety of tests to obtain information about genetic disorders and
other medical conditions in the fetus.
Chorionic villus sampling
—A procedure used for prenatal diagnosis at 10–12 weeks
gestation. Under ultrasound guidance a needle is inserted either through
the mother's vagina or abdominal wall and a sample of the
chorionic membrane. These cells are then tested for chromosome
abnormalities or other genetic diseases.
—A microscopic thread-like structure found within each cell of
the human body and consisting of a complex of proteins and DNA. Humans
have 46 chromosomes arranged into 23 pairs. Chromosomes contain the
genetic information necessary to direct the development and functioning
of all cells and systems in the body. They pass on hereditary traits
from parents to child (like eye color) and determine whether the child
will be male or female.
—A laboratory test used to study an individual's
chromosome make-up. Chromosomes are separated from cells, stained, and
arranged in order from largest to smallest so that their number and
structure can be studied under a microscope.
—A genetic condition resulting from a mutation, crossing over, or
nondisjunction of chromosomes during cell division, causing a variation
in the number of chromosomes in the cells.
—The transfer of one part of a chromosome to another chromosome
during cell division. A balanced translocation occurs when pieces from
two different chromosomes exchange places without loss or gain of any
chromosome material. An unbalanced translocation involves the unequal
loss or gain of genetic information between two chromosomes.
—An abnormal condition where three copies of one chromosome are
present in the cells of an individual's body instead of two, the
—A medical test in which sound waves are directed against
internal structures in the body. As sound waves bounce off the internal
structure, they create an image on a video screen. Ultrasonography is
often used to diagnose fetal abnormalities, gallstones, heart defects,
and tumors. Also called ultrasound imaging.
Berg, Bruce O. "Chromosomal Abnormalities and Neurocutaneous
Textbook of Clinical Neurology.
Edited by Christopher G. Goetz. Philadelphia: Saunders, 2003.
Hall, Judith G. "Chromosomal Clinical Abnormalities." In
Nelson Textbook of Pediatrics.
Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.
Support Organization for Trisomy 18, 13, and Related Disorders (SOFT).
2982 South Union St., Rochester, NY 14624. Web site: