Seckel syndrome
ORPHA:808· ICD-10 Q87.1
Definition
A rare microcephalic primordial dwarfism characterized by severe proportionate short stature of prenatal onset, primary microcephaly, distinctive facial features, and mild to severe intellectual disability.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal