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 58 26 60 76 30 13 41
Brachydactyly with Joint Dysplasia 58 26 76
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 58 74
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 26 76
Brachydactyly-Elbow Wrist Dysplasia Syndrome 26 60
Lbnbg 58 76
Brachydactyly-Joint Dysplasia Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
brachydactyly-elbow wrist dysplasia syndrome
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
liebenberg syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 186550
ICD10 via Orphanet 35 Q73.8
Orphanet 60 ORPHA1275
MedGen 43 C1861313
UMLS 74 C1861313

Summaries for Liebenberg Syndrome

Genetics Home Reference : 26 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.

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 : 58 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 : 76 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 : 77 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 11.5
2 brachydactyly 10.1

Symptoms & Phenotypes for Liebenberg Syndrome

Human phenotypes related to Liebenberg Syndrome:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormality of the ulna 60 33 hallmark (90%) Very frequent (99-80%) HP:0002997
4 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
5 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
6 elbow dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003042
7 synostosis of carpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005048
8 aplasia/hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0006501
9 abnormality of the humerus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003063
10 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
11 abnormal distal phalanx morphology of finger 33 hallmark (90%) HP:0009832
12 abnormality of the fingernails 60 Very frequent (99-80%)
13 elbow flexion contracture 33 HP:0002987
14 abnormality of the distal phalanx of finger 60 Very frequent (99-80%)
15 abnormality of the carpal bones 33 HP:0001191
16 2-3 finger syndactyly 33 HP:0001233
17 joint contracture of the 5th finger 33 HP:0009183
18 metaphyseal widening 33 HP:0003016
19 radially deviated wrists 33 HP:0006190

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
brachydactyly
2-3 finger syndactyly
abnormal carpal bones
fifth finger camptodactyly
radially deviated wrists
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 30 PITX1

Anatomical Context for Liebenberg Syndrome

MalaCards organs/tissues related to Liebenberg Syndrome:

42
Bone

Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors Year
1
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. ( 30711920 )
2019
2
The Liebenberg syndrome: in depth analysis of the original family. ( 23940102 )
2014
3
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. ( 25124102 )
2014
4
Liebenberg syndrome: case report and insight into molecular basis. ( 23395106 )
2013
5
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. ( 23587911 )
2013
6
Liebenberg syndrome: first case of monovular twins. ( 20048589 )
2010
7
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family. ( 10970192 )
2000

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....