trisomy 13

What are the common features of Trisomy 13?

Children with Trisomy 13 often exhibit a range of clinical features, including:
- Craniofacial abnormalities: These can include microcephaly, cleft lip and/or palate, and microphthalmia.
- Central nervous system anomalies: Such as holoprosencephaly, a condition where the brain does not divide properly into two hemispheres.
- Cardiac defects: Congenital heart defects are common, including ventricular septal defect (VSD) and atrial septal defect (ASD).
- Polydactyly: Extra fingers or toes.
- Growth retardation: Both intrauterine and postnatal growth can be significantly affected.
- Urogenital anomalies: Kidney malformations and abnormal genitalia.

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