Liebenberg Syndrome (LBNBG)

Categories: Bone diseases, Fetal diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Liebenberg Syndrome

MalaCards integrated aliases for Liebenberg Syndrome:

Name: Liebenberg Syndrome 57 20 43 58 73 29 13 39
Brachydactyly with Joint Dysplasia 57 20 43 73
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 20 43 73
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 57 71
Brachydactyly-Elbow Wrist Dysplasia Syndrome 43 58
Lbnbg 57 73
Brachydactyly-Joint Dysplasia Syndrome 58
Brachydactyly Elbow Wrist Dysplasia 20


Orphanet epidemiological data:

brachydactyly-elbow wrist dysplasia syndrome
Inheritance: Autosomal dominant;


57 (Updated 05-Mar-2021)
autosomal dominant


liebenberg syndrome:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM® 57 186550
ICD10 via Orphanet 33 Q73.8
Orphanet 58 ORPHA1275
MedGen 41 C1861313
UMLS 71 C1861313

Summaries for Liebenberg Syndrome

MedlinePlus Genetics : 43 Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity. In people with this condition, bones and other tissues in the elbows, forearms, wrists, and hands have characteristics of related structures in the lower limbs. For example, bones in the elbows are abnormally shaped, which affects mobility of the joints. The stiff elbows function more like knees, unable to rotate as freely as elbows normally do. Bones in the wrists are joined together (fused), forming structures that resemble those in the ankles and heels and causing permanent bending of the hand toward the thumb (radial deviation). The bones in the hands (metacarpals) are longer than normal, and the fingers are short (brachydactyly), similar to the proportions of bones found in the feet. In addition, muscles and tendons that are typically found only in the hands and not in the feet are missing in people with Liebenberg syndrome. Affected individuals also have joint deformities (contractures) that limit movement of the elbows, wrists, and hands. Development of the lower limbs is normal in people with this condition.Individuals with Liebenberg syndrome have no other health problems related to this condition, and life expectancy is normal.

MalaCards based summary : Liebenberg Syndrome, also known as brachydactyly with joint dysplasia, is related to brachydactyly and congenital limb malformation. An important gene associated with Liebenberg Syndrome is PITX1 (Paired Like Homeodomain 1). Related phenotypes are macrocephaly and joint stiffness

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1275DefinitionBrachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.Visit the Orphanet disease page for more resources.

OMIM® : 57 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). (186550) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Liebenberg syndrome: An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation.

Wikipedia : 74 Liebenberg Syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of... more...

Related Diseases for Liebenberg Syndrome

Diseases related to Liebenberg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.2
2 congenital limb malformation 10.0

Symptoms & Phenotypes for Liebenberg Syndrome

Human phenotypes related to Liebenberg Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
4 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
7 abnormal distal phalanx morphology of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009832
8 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
9 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
10 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
11 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
12 elbow flexion contracture 31 HP:0002987
13 abnormality of the carpal bones 31 HP:0001191
14 2-3 finger syndactyly 31 HP:0001233
15 joint contracture of the 5th finger 31 HP:0009183
16 metaphyseal widening 31 HP:0003016
17 radially deviated wrists 31 HP:0006190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Hands:
2-3 finger syndactyly
radially deviated wrists
abnormal carpal bones
fifth finger camptodactyly
Skeletal Limbs:
elbow flexion deformity
enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae)

Clinical features from OMIM®:

186550 (Updated 05-Mar-2021)

Drugs & Therapeutics for Liebenberg Syndrome

Search Clinical Trials , NIH Clinical Center for Liebenberg Syndrome

Genetic Tests for Liebenberg Syndrome

Genetic tests related to Liebenberg Syndrome:

# Genetic test Affiliating Genes
1 Liebenberg Syndrome 29 PITX1

Anatomical Context for Liebenberg Syndrome

Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors PMID Year
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 57 61
30711920 2019
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 61 57
23022097 2012
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. 61 57
10970192 2000
A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. 57
4702300 1973
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. 61
32598510 2020
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. 61
25124102 2014
The Liebenberg syndrome: in depth analysis of the original family. 61
23940102 2014
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. 61
23587911 2013
Liebenberg syndrome: case report and insight into molecular basis. 61
23395106 2013
Liebenberg syndrome: first case of monovular twins. 61
20048589 2010

Variations for Liebenberg Syndrome

Expression for Liebenberg Syndrome

Search GEO for disease gene expression data for Liebenberg Syndrome.

Pathways for Liebenberg Syndrome

GO Terms for Liebenberg Syndrome

Cellular components related to Liebenberg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.62 PITX1 MACROH2A1

Sources for Liebenberg Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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