Trichorhinophalangeal syndrome type II
Trichorhinophalangeal syndrome type II
Definition
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Also known as deletion 8q24.1, Langer-Giedion syndrome, monosomy 8q24.1, trichorhinophalangeal syndrome type 2 — per MONDO