Roberts syndrome
ORPHA:3103· ICD-10 Q73.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of highly variable limb reduction defects affecting both upper and lower limbs, growth retardation, microcephaly, craniofacial anomalies and variable neurodevelopmental delay.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal