Trisomy 13 Syndrome

Key Features

• Incidence of trisomy 13 is about 1 per 12,000 live births, and 60% of affected individuals are female

• Risk of having a child affected with a trisomy increases with maternal age

• Most infants have congenital anomalies that are incompatible with survival

• Surviving children demonstrate failure to thrive, cognitive disabilities, apneic spells, seizures, and deafness

• Death usually occurs in early infancy or by the second year of life, commonly as a result of heart failure or infection

Clinical Findings

• Characteristic features

  • Normal birth weight

  • Central nervous system malformations

  • Eye malformations

  • Cleft lip and palate

  • Polydactyly or syndactyly

  • Congenital heart disease

Diagnosis

• Rapid confirmation of suspected trisomy 13 can be made by fluorescence in situ hybridization (FISH)

Treatment

• General supportive care

• A support group for families is called SOFT (see http://www.trisomy.org/)