The syndrome occurs when a small piece of chromosome 8's long arm, which contains a number of genes, is missing. The loss of these genes is responsible for some of the overall characteristics of<unk> . The missing portion of the chromosome is 8q23.2–q24.1. This region includes the genes TRPS1 and EXT1.
Langer–Giedion syndrome
Legg–Calvé–Perthes disease
Bardet–Biedl syndrome
Fibrodysplasia ossificans progressiva
Daentl Townsend Siegel syndrome
Tricho-rhino-phalangeal syndrome Type 1
Schinzel–Giedion syndrome
Marshall–Smith syndrome