Coffin-Siris syndrome
Coffin-Siris syndrome
Definition
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Also known as Coffin-Siris syndrome, CSS — per MONDO