" /> Langer-Giedion syndrome - CISMeF





ICD-11 code : LD24.80;

Preferred Label : Langer-Giedion syndrome;

ICD-11 definition : Langer-Giedon syndrome or trichorhinophalangeal syndrome type 2 is a chromosomal anomaly syndrome characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses.;

ICD-11 synonym : Trichorhinophalangeal syndrome type 2; 8q24.1 deletion syndrome; 8q24.1 microdeletion syndrome; Monosomy 8q24.1;

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

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02/05/2025


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