Langer–Giedion syndrome
| Langer–Giedion syndrome | |
|---|---|
| Other names | Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II (TRPS2), Langer–Giedion chromosome region (LGCR) |
| A person showing the typical features of Langer–Giedion syndrome | |
| Specialty | Medical genetics |
| Differential diagnosis | Tricho-rhino-phalangeal syndrome Type 1, Fibrodysplasia Ossificans Progressiva, Trichorhinophalangeal syndrome type 3, multiple exostoses, Legg–Calvé–Perthes disease |
Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.