LBNBG
MCID: LBN004
MIFTS: 24

Liebenberg Syndrome (LBNBG)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Liebenberg Syndrome

MalaCards integrated aliases for Liebenberg Syndrome:

Name: Liebenberg Syndrome 57 25 59 74 29 13 40
Brachydactyly with Joint Dysplasia 57 25 74
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 57 72
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 25 74
Brachydactyly-Elbow Wrist Dysplasia Syndrome 25 59
Lbnbg 57 74
Brachydactyly-Joint Dysplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
brachydactyly-elbow wrist dysplasia syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
liebenberg syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186550
ICD10 via Orphanet 34 Q73.8
Orphanet 59 ORPHA1275
MedGen 42 C1861313
UMLS 72 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 elbow wrist dysplasia and brachydactyly. 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

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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 elbow wrist dysplasia 11.6
2 brachydactyly 10.3
3 congenital limb malformation 10.2

Symptoms & Phenotypes for Liebenberg Syndrome

Human phenotypes related to Liebenberg Syndrome:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0002997
4 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
5 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
6 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
7 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
8 aplasia/hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0006501
9 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
10 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
11 abnormal distal phalanx morphology of finger 32 hallmark (90%) HP:0009832
12 abnormality of the fingernails 59 Very frequent (99-80%)
13 elbow flexion contracture 32 HP:0002987
14 abnormality of the distal phalanx of finger 59 Very frequent (99-80%)
15 abnormality of the carpal bones 32 HP:0001191
16 2-3 finger syndactyly 32 HP:0001233
17 joint contracture of the 5th finger 32 HP:0009183
18 metaphyseal widening 32 HP:0003016
19 radially deviated wrists 32 HP:0006190

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

186550

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:

41
Bone

Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors PMID Year
1
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 38 8
30711920 2019
2
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 38 8
23022097 2012
3
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. 38 8
10970192 2000
4
A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. 8
4702300 1973
5
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. 38
25124102 2014
6
The Liebenberg syndrome: in depth analysis of the original family. 38
23940102 2014
7
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. 38
23587911 2013
8
Liebenberg syndrome: case report and insight into molecular basis. 38
23395106 2013
9
Liebenberg syndrome: first case of monovular twins. 38
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

Sources for Liebenberg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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