" /> Liebenberg syndrome - CISMeF





Preferred Label : Liebenberg syndrome;

Symbol : LBNBG;

CISMeF acronym : LBNBG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly with joint dysplasia; Synostosis, carpal, with dysplastic elbow joints and brachydactyly;

Description : Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by complex genomic rearrangement resulting in misexpression of the paired-like homeodomain transcription factor-1 gene (PITX1, 602149);

Prefixed ID : #186550;

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06/05/2025


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