LBNBG
MCID: LBN004
MIFTS: 28

Liebenberg Syndrome (LBNBG)

Categories: Bone diseases, Fetal diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Liebenberg Syndrome

MalaCards integrated aliases for Liebenberg Syndrome:

Name: Liebenberg Syndrome 57 19 42 58 73 38 75
Brachydactyly-Elbow Wrist Dysplasia Syndrome 42 58 28 5
Brachydactyly with Joint Dysplasia 57 19 42 73
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 19 42 73
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 57 71
Lbnbg 57 73
Brachydactyly-Joint Dysplasia Syndrome 58
Brachydactyly Elbow Wrist Dysplasia 19

Characteristics:


Inheritance:

Liebenberg Syndrome: Autosomal dominant 57
Brachydactyly-Elbow Wrist Dysplasia Syndrome: Autosomal dominant 58

Prevelance:

Brachydactyly-Elbow Wrist Dysplasia Syndrome: <1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 186550
ICD10 via Orphanet 32 Q73.8
Orphanet 58 ORPHA1275
MedGen 40 C1861313
UMLS 71 C1861313

Summaries for Liebenberg Syndrome

MedlinePlus Genetics: 42 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-elbow wrist dysplasia syndrome, is related to banki syndrome 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

GARD: 19 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.

Orphanet: 58 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.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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 banki syndrome 11.1
2 brachydactyly 10.2
3 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
4 congenital limb malformation 10.0

Symptoms & Phenotypes for Liebenberg Syndrome

Human phenotypes related to Liebenberg Syndrome:

58 30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 joint stiffness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001387
3 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
4 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
5 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
6 abnormal distal phalanx morphology of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009832
7 elbow dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003042
8 synostosis of carpal bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005048
9 aplasia/hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006501
10 abnormality of the humerus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003063
11 abnormal morphology of ulna 30 Hallmark (90%) HP:0040071
12 abnormality of the ulna 58 Very frequent (99-80%)
13 elbow flexion contracture 30 HP:0002987
14 2-3 finger syndactyly 30 HP:0001233
15 joint contracture of the 5th finger 30 HP:0009183
16 metaphyseal widening 30 HP:0003016
17 radially deviated wrists 30 HP:0006190
18 abnormal carpal morphology 30 HP:0001191

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 Brachydactyly-Elbow Wrist Dysplasia Syndrome 28 PITX1

Anatomical Context for Liebenberg Syndrome

Organs/tissues related to Liebenberg Syndrome:

MalaCards : Bone

Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors PMID Year
1
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. 62 57
30711920 2019
2
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 62 57
23022097 2012
3
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. 62 57
10970192 2000
4
A pedigree with unusual anomalies of the elbows, wrists and hands in five generations. 57
4702300 1973
5
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. 62
32598510 2020
6
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. 62
25124102 2014
7
The Liebenberg syndrome: in depth analysis of the original family. 62
23940102 2014
8
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. 62
23587911 2013
9
Liebenberg syndrome: case report and insight into molecular basis. 62
23395106 2013
10
Liebenberg syndrome: first case of monovular twins. 62
20048589 2010

Variations for Liebenberg Syndrome

ClinVar genetic disease variations for Liebenberg Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX1 NM_002653.5(PITX1):c.793G>A (p.Gly265Ser) SNV Benign
1294420 GRCh37: 5:134364621-134364621
GRCh38: 5:135028931-135028931
2 PITX1 NM_002653.5(PITX1):c.896G>C (p.Gly299Ala) SNV Benign
286868 rs479632 GRCh37: 5:134364518-134364518
GRCh38: 5:135028828-135028828

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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