Liebenberg syndrome

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;

Détails

Origin ID

186550;

UMLS CUI

C1861313;

CISMeF manual mappings
- Brachydactyly-elbow wrist dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brachydactyly elbow wrist dysplasia (disorder) [SNOMED CT concept]
- Brachydactyly-elbow wrist dysplasia syndrome [ORDO Disease]
- synostosis, carpal, with dysplastic elbow joints and brachydactyly [MeSH concept]
- synostosis, carpal, with dysplastic elbow joints and brachydactyly [MeSH Supplementary Concept]
HPO term(s)
- 2-3 finger syndactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Elbow flexion contracture [HPO term]
- Joint contracture of the 5th finger [HPO term]
- Metaphyseal widening [HPO term]
- Radially deviated wrists [HPO term]
- enlarged, poorly modeled metaphyses [HPO term]
ORDO concept(s)
- Brachydactyly-elbow wrist dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly elbow wrist dysplasia (disorder) [SNOMED CT concept]
- Brachydactyly-elbow wrist dysplasia [ICD-11 More detail]
- Brachydactyly-elbow wrist dysplasia syndrome [ORDO Disease]
- synostosis, carpal, with dysplastic elbow joints and brachydactyly [MeSH Supplementary Concept]
- synostosis, carpal, with dysplastic elbow joints and brachydactyly [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients