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
- Testicles that have not descended
- 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
- 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
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.
Patau Syndrome Pictures
Picture 1 : Chromosome 13
Image source: wikipedia.org
Picture 2 : Patau Syndrome Signs and symptoms
Picture 3 : infant with polydactyly
Photo source: wikipedia.org
Picture 4 : A girl with Patau Syndrome
Image source : trialx.com
Picture 5 : Patau’s Syndrome Picture
Image source : trialx.com
Support groups for Patau syndrome
Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) – www.trisomy.org