LD24.80

Langer-Giedion syndrome

Síndrome de Langer-Giedion

Category

Definition

Langer-Giedion syndrome or trichorhinophalangeal syndrome type 2 is a chromosomal anomaly syndrome characterised by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.

Index Terms

Langer-Giedion syndrome8q24.1 microdeletion syndromeMonosomy 8q24.1Trichorhinophalangeal syndrome type 28q24.1 deletion syndrome