Schinzel-Giedion syndrome

Seckel Syndrome

Senior-Loken syndrome

Severe Congenital Neutropenia

SHORT Syndrome

Short-rib thoracic dysplasia with or without polydactyly

Simpson-Golabi-Behmel syndrome

SOFT syndrome

Solid Tumors

Sotos syndrome

Sotos-like syndrome

Spastic paraplegia

Syndromic forms of epilepsy