RAPADILINO syndrome
ORPHA:3021· ICD-10 Q87.1
Definition
A rare multiple congenital anomalies characterized by distinctive signs and facial associated features from which the acronym RAPADILINO is made: RA for radial ray defect, PA for patellae hypoplasia/aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal