Langer-Giedion syndrome

Description

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 syndrome
8q24.1 deletion syndrome
8q24.1 microdeletion syndrome

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Monosomy 8q24.1
Trichorhinophalangeal syndrome type 2

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD24.8Y – Other specified acromelic dysplasias
LD24.8Z – Acromelic dysplasias, unspecified

Foundation entity

Langer-Giedion syndrome – http://id.who.int/icd/entity/315453775

Part of: LD24.8: Acromelic dysplasias › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies