Trisomy 13; Trisomy 13 Syndrome; Complete Trisomy 13 Syndrome; D Trisomy 13 Syndrome; Bartholin-Patau syndrome; Patau’s Syndrome

Patau syndrome is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body.

Diagnostic testing:

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  Cardiac ultrasound may show arial septal defect, patent ductus arteriosus, and ventricular septal defect;

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  Gastrointestinal x-rays or ultrasound may show rotation of the colon; and

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  MRI or CT scans of the head may reveal a problem with the structure of the brain, where the two sides of the brain are joined (holoprosencephaly).

Physical findings:

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  Single umbilical artery at birth;

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  Abnormal placement of the heart toward the right side of the chest (dextroposition);

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  Arial septal defect;

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  Patent ductus arteriosus;

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  Ventricular septal defect;

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  Brain or spinal cord abnormalities;

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  Very small or poorly developed eyes (microphthalmia);

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  Extra fingers and/or toes (polydactyly);

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  An opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate); and

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  Weak muscle tone (hypotonia);

Many infants with this disorder fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and experience pisodes in which there is temporary cessation of spontaneous breathing (apnea).

ICD-9: 758.1

Onset is congenital, with all of the physical abnormalities present at birth. The syndrome involves multiple abnormalities, many of which are not compatible with life. Due to the presence of several life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive.

Medical management of children with Patau syndrome is planned on a case-by-case basis and depends on the individual circumstances of the infant.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis;

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  MRI or CT scan of the brain; and

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  Laboratory tests showing results of genetic testing (chromosomal analysis).

Suggested Listings for Evaluation: