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Patau Syndrome Pictures

What is Patau syndrome ?

Patau syndrome is a genetic disorder wherein a portion or the entire chromosome thirteen is present thrice in the body cells. Patau syndrome is also known as Trisomy 13. The extra portion of chromosome thirteen causes deficits in growth and development which leads to physical deformities in many parts of the body and extreme intellectual disability.

Patau syndrome Symptoms

Some of the symptoms of Patau syndrome are listed below:

A small head
Hernias
Testicles that have not descended
Seizures
Poorly developed or small eyes. The eyes may also be close-set wherein they may be fused together.
Reduced intellectual ability or mental retardation
Ears that are set low
Additional fingers or toes
Hands that are folded or clenched
Decreased muscle tone.
A split, hole or cleft in the iris
The lower jaw is smaller than normal
Cleft lip or palate
Single crease on the palm
Defects in the scalp
Abnormalities of the skeleton
The babies will have a congenital heart defect.

Other birth defects in babies include:

Defects in the kidneys
Omphalocele
Holoprosencephaly
Defects of scalp skin

Young children and Infants may show symptoms such as:

Scoliosis and disabilities in developmental
Feeding difficulties
Slow post-natal growth,
Sleep apnea
Gastroesophageal reflux
Hypertension

Patau Syndrome Causes

Patau syndrome is caused due to the presence or an additional strand of DNA in chromosome thirteen in some or all of the cells in the body.
When all the cells of the body have an extra chromosome 13, it is called Trisomy 13.
When an extra chromosome 13 is present in some body cells it is called Trisomy 13 mosaicism and
Partial trisomy refers to the presence of a portion of an extra chromosome 13 in the body cells.

Patau syndrome Treatment

There is no cure for Patau syndrome. However the following measures may be taken to alleviate the symptoms:

Some of the physical deformities may be treated with surgery and medications. Surgery may also be used to treat organ damage.
Babies and infants can be tube fed or a gastric tube can be used.
Hearing and vision aids can be used to treat the respective problems
Speech therapy, physical therapy and occupational therapy may be used to assist individuals with Patau syndrome to achieve their potential.