Liebenberg Syndrome (LBNBG)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Liebenberg Syndrome

MalaCards integrated aliases for Liebenberg Syndrome:

Name: Liebenberg Syndrome 56 52 25 58 73 29 13 39
Brachydactyly with Joint Dysplasia 56 52 25 73
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 52 25 73
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 56 71
Brachydactyly-Elbow Wrist Dysplasia Syndrome 25 58
Lbnbg 56 73
Brachydactyly-Joint Dysplasia Syndrome 58
Brachydactyly Elbow Wrist Dysplasia 52


Orphanet epidemiological data:

brachydactyly-elbow wrist dysplasia syndrome
Inheritance: Autosomal dominant;


autosomal dominant


liebenberg syndrome:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM 56 186550
ICD10 via Orphanet 33 Q73.8
Orphanet 58 ORPHA1275
MedGen 41 C1861313
UMLS 71 C1861313

Summaries for Liebenberg Syndrome

Genetics Home Reference : 25 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). Affiliated tissues include bone, and related phenotypes are macrocephaly and joint stiffness

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1275 Definition Brachydactyly -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 : 56 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)

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 10.3
2 congenital limb malformation 10.2

Symptoms & Phenotypes for Liebenberg Syndrome

Human phenotypes related to Liebenberg Syndrome:

58 31 (show all 19)
# 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 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
6 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
7 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
8 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
9 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
10 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
11 abnormal distal phalanx morphology of finger 31 hallmark (90%) HP:0009832
12 abnormality of the fingernails 58 Very frequent (99-80%)
13 elbow flexion contracture 31 HP:0002987
14 abnormality of the distal phalanx of finger 58 Very frequent (99-80%)
15 abnormality of the carpal bones 31 HP:0001191
16 2-3 finger syndactyly 31 HP:0001233
17 joint contracture of the 5th finger 31 HP:0009183
18 metaphyseal widening 31 HP:0003016
19 radially deviated wrists 31 HP:0006190

Symptoms via clinical synopsis from OMIM:

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:


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

MalaCards organs/tissues related to Liebenberg Syndrome:


Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors PMID Year
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 56 61
30711920 2019
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 56 61
23022097 2012
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. 56 61
10970192 2000
A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. 56
4702300 1973
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 nuclear chromatin GO:0000790 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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....