Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.

1. Abhishek Jha

2. Description
 caused by a chromosomal abnormality, extra copy of
chromosome 13 also known as trisomy 13 or trisomy D.
 trisomy 13 is caused by nondisjunction of chromosomes
during meiosis.
 Affects about 1 in 12,000 live births.
 More than 80% of infants with Patau syndrome die within
their first year of life.

4. History
 Patau syndrome, or “Trisomy 13”, as it was first called, was
first observed by Thomas Bartholin in 1657.
 However, the actual genetic and chromosomal-related parts
of it were discovered by Dr. Klaus Patau in 1960, hence the
name “Patau syndrome

5. cause
 In Patau syndrome, the cells have three copies of
chromosome 13 instead of the normal two, as well as
extra material from the extra chromosome attached to
another chromosome, resulting in changes.
 chromosome 13 becomes attached to another
chromosome (translocated). With a translocation, the
person has a partial trisomy for chromosome 13 and
often the physical signs of the syndrome differ from the
typical Patau syndrome.

6.  . Most cases are not inherited, but occur as random
events during the formation of gametes.
 A small percentage of cases occur when only some of the
body's cells have an extra copy; such cases are called
Mosaic Patau. Is also not inherited. It occurs as a
random error during cell division early in fetal
development.
 A baby with a
cleft palate, a
common
abnormality of
Patau
syndrome

7. Manifestations and physical finding
• Mental and motor disabilities similar to that of autism.
• Microcephaly, or a less rounded brain resulting in more of an egg-
shaped skull.
• Eye structure defects:
• Microphthalmia, or crossed eyes (may involve one eye or both)
• Cataracts
• Sensory Nystagmus, or involuntary “twitching” of the eye
• Optic nerve hypoplasia, or the underdevelopment of the optic nerve
Sensory nystagmus

9. Muscular and skin problems:
• Polydactyly, or extra fingers/toes
• Low-down ears
• Prominent heels and deformed feet, called ‘rocker-
bottom’ feet
• Strange palm patterns, commonly called the Simian line
• Overlapping of the fingers over thumb
• Cleft palate.
Polydactyly ‘Rocker-bottom’ feetThe Simian
line

10. Treatment
• There is no treatment to address the condition. However, there are
procedures to sustain life for a bit.
• Most times, surgery is required to fix defects to allow the child to
survive for as long as possible.
• Since most infants with Patau syndrome die within the first year of
life, special management/procedures are necessary; this is very
complex and carefully laid out. Many children have trouble
surviving the first few days or weeks of life due to severe
neurologic and vascular problems.