Distal deletion 7p syndrome
ORPHA:96126· ICD-10 Q93.5
Definition
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.
- Age of onset
- Antenatal, Neonatal