MCID: LBN004
MIFTS: 25

Liebenberg Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Liebenberg Syndrome

MalaCards integrated aliases for Liebenberg Syndrome:

Name: Liebenberg Syndrome 53 24 55 71 28 13
Brachydactyly with Joint Dysplasia 53 24 71
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 53 69
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly 24 71
Brachydactyly-Elbow Wrist Dysplasia Syndrome 24 55
Lbnbg 53 71
Brachydactyly-Joint Dysplasia Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
brachydactyly-elbow wrist dysplasia syndrome
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
liebenberg syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 186550
Orphanet 55 ORPHA1275
ICD10 via Orphanet 33 Q73.8
MedGen 39 C1861313
UMLS 69 C1861313

Summaries for Liebenberg Syndrome

Genetics Home Reference : 24 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, and has symptoms including joint stiffness, macrocephaly and abnormality of the ulna. An important gene associated with Liebenberg Syndrome is PITX1 (Paired Like Homeodomain 1). Affiliated tissues include bone.

OMIM : 53 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 : 71 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.

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 11.3
2 brachydactyly 9.9

Symptoms & Phenotypes for Liebenberg Syndrome

Symptoms via clinical synopsis from OMIM:

53
SkeletalHands:
brachydactyly
2-3 finger syndactyly
abnormal carpal bones
fifth finger camptodactyly
radially deviated wrists
more
SkeletalLimbs:
elbow flexion deformity
enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae)


Clinical features from OMIM:

186550

Human phenotypes related to Liebenberg Syndrome:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 abnormality of the ulna 55 31 hallmark (90%) Very frequent (99-80%) HP:0002997
4 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
5 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
6 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
7 elbow dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0003042
8 abnormality of the distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009832
9 synostosis of carpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0005048
10 aplasia/hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0006501
11 abnormality of the humerus 55 31 hallmark (90%) Very frequent (99-80%) HP:0003063
12 abnormality of the carpal bones 31 HP:0001191
13 2-3 finger syndactyly 31 HP:0001233
14 joint contracture of the 5th finger 31 HP:0009183
15 metaphyseal widening 31 HP:0003016
16 elbow flexion contracture 31 HP:0002987
17 radially deviated wrists 31 HP:0006190

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 28 PITX1

Anatomical Context for Liebenberg Syndrome

MalaCards organs/tissues related to Liebenberg Syndrome:

38
Bone

Publications for Liebenberg Syndrome

Articles related to Liebenberg Syndrome:

# Title Authors Year
1
A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome. ( 25124102 )
2014
2
The Liebenberg syndrome: in depth analysis of the original family. ( 23940102 )
2014
3
Liebenberg syndrome: case report and insight into molecular basis. ( 23395106 )
2013
4
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
5
Liebenberg syndrome: first case of monovular twins. ( 20048589 )
2010
6
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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