Distal duplication 6p syndrome
ORPHA:1745· ICD-10 Q92.3
Definition
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal