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Patau syndrome: Treatment, symptoms, advice and help

About patau syndrome

Patau syndrome also known as ‘Trisomy 13’ is a genetic disorder characterised by physical and mental abnormalities in the individual. The genetic disorders occur either due to deletion or addition of chromosome material. Patau syndrome results from extra material in chromosome number 13. Patau syndrome, like any other genetic disorder is an incurable disorder. Moreover, it carries a poor prognosis and shows a poor survival rate.

Patau syndrome: Incidence, age and sex

Patau syndrome is quite a rare genetic disease and is present since birth. It affects about 1 in every 10,000 live births.

Signs and symptoms of patau syndrome: Diagnosis

The clinical spectrum of Patau syndrome is quite wide and affects intellectual abilities, physical attributes and also carries serious health concerns of the vital body organs. The physical abnormalities are typical and constitute small head (microcephaly), small or poorly developed eyes, cleft lip or cleft palate. Other physical deformities include extra fingers, extra toes, and deformed shape of ears or sole of feet. Spinal deformities are also manifested in some affected children. The muscle tone may be poor which can be easily diagnosed during the first few months by increased floppiness in the baby. Congenital heart defects are commonly seen and include ventricular septal defect and the patent ductus arteriosus.

Patau syndrome can be easily diagnosed at birth by presence of typical physical abnormalities, heart defects, feeding difficulty and by presence of single artery in the umbilical cord. An MRI scan of brain or echocardiography (imaging test of heart) are done to confirm the defects. Genetic testing may be done to establish the diagnosis.

Causes and prevention of patau syndrome

Patau syndrome is a disorder resulting from an extra copy of chromosome number 13. The main risk factor for this syndrome is increasing maternal age. It is especially seen in babies born to women more than 35 years of age at the time of conception. The syndrome is not inherited but occurs due to random error in development of either the egg or the sperm.

Patau syndrome: Complications

Patau syndrome results not only in health-related complications but also personal and social implications. Individuals with Patau syndrome have increased risk of heart defects like ventricular septal defect and patent ductus arteriosus, kidney problems, convulsions and breathing difficulties. These complications are serious and potentially fatal which may result in death.

Patau syndrome: Treatment

Unfortunately Patau syndrome has no cure. A multi-dimensional approach may be required to manage various problems of this genetic syndrome. Speech therapist helps in improvement of speech. Schools imparting special education and vocational training are needed in individuals with mild mental retardation or learning disabilities. Excellent supportive care is an essential part of management of affected individuals. However, the survival rate of Patau syndrome is extremely poor with only about 10 % of babies surviving the first year of life.