Trisomy 5p syndrome
ORPHA:1742· ICD-10 Q92.2
Definition
A rare chromosomal anomaly caused by the duplication of a segment of variable size of the short arm of chromosome 5, characterized by macrocephaly, intellectual disability and distinctive facial features. Other common features include talipes equinovarus, cerebral malformations and hypotonia. Congenital heart defects can sometimes occur.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal