Trichorhinophalangeal syndrome type II

MONDO:0007874

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: Langer-Giedion syndrome, deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type 2, Giedion-Langer syndrome, Langer Giedion syndrome, TRPS 2, TRPS2

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